U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 623

1.

rs1490603251 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    4:145870415 (GRCh38)
    4:146791567 (GRCh37)
    Canonical SPDI:
    NC_000004.12:145870414:T:C
    Gene:
    ZNF827 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000004.12:g.145870415T>C, NC_000004.11:g.146791567T>C, NM_178835.5:c.1811A>G, NM_178835.4:c.1811A>G, NM_178835.3:c.1811A>G, XM_011531634.4:c.1811A>G, XM_011531635.3:c.1775A>G, XM_011531635.2:c.1775A>G, XM_011531635.1:c.1775A>G, XM_017007768.3:c.1805A>G, XM_017007768.2:c.1805A>G, XM_017007768.1:c.1805A>G, XM_017007777.3:c.44A>G, XM_017007777.2:c.44A>G, XM_017007777.1:c.44A>G, XM_017007775.3:c.1811A>G, XM_017007775.2:c.1811A>G, XM_017007775.1:c.1811A>G, XM_017007776.3:c.1811A>G, XM_017007776.2:c.1811A>G, XM_017007776.1:c.1811A>G, XM_017007769.2:c.1775A>G, XM_017007769.1:c.1775A>G, NM_001306215.2:c.1811A>G, NM_001306215.1:c.1811A>G, XM_047449636.1:c.1109A>G, NM_001410850.1:c.1811A>G, XM_047449634.1:c.1775A>G, XM_047449640.1:c.1811A>G, XM_047449637.1:c.1811A>G, XM_047449638.1:c.1805A>G, NP_849157.2:p.Glu604Gly, XP_011529936.1:p.Glu604Gly, XP_011529937.1:p.Glu592Gly, XP_016863257.1:p.Glu602Gly, XP_016863266.1:p.Glu15Gly, XP_016863264.1:p.Glu604Gly, XP_016863265.1:p.Glu604Gly, XP_016863258.1:p.Glu592Gly, NP_001293144.1:p.Glu604Gly, XP_047305592.1:p.Glu370Gly, XP_047305590.1:p.Glu592Gly, XP_047305596.1:p.Glu604Gly, XP_047305593.1:p.Glu604Gly, XP_047305594.1:p.Glu602Gly

    2.

    rs1490514672 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:145761037 (GRCh38)
      4:146682189 (GRCh37)
      Canonical SPDI:
      NC_000004.12:145761036:C:T
      Gene:
      ZNF827 (Varview), C4orf51 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      T=0.000007/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1490189320 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        4:145765040 (GRCh38)
        4:146686192 (GRCh37)
        Canonical SPDI:
        NC_000004.12:145765039:C:T
        Gene:
        ZNF827 (Varview), C4orf51 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000028/1 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000011/3 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        NC_000004.12:g.145765040C>T, NC_000004.11:g.146686192C>T, NM_178835.5:c.3178G>A, NM_178835.4:c.3178G>A, NM_178835.3:c.3178G>A, XM_011531634.4:c.3178G>A, XM_011531635.3:c.3142G>A, XM_011531635.2:c.3142G>A, XM_011531635.1:c.3142G>A, XM_017007768.3:c.3172G>A, XM_017007768.2:c.3172G>A, XM_017007768.1:c.3172G>A, XM_017007770.3:c.2944G>A, XM_017007770.2:c.2944G>A, XM_017007770.1:c.2944G>A, XM_017007777.3:c.1411G>A, XM_017007777.2:c.1411G>A, XM_017007777.1:c.1411G>A, XM_011531645.3:c.1174G>A, XM_011531645.2:c.1174G>A, XM_011531645.1:c.1174G>A, XM_017007775.3:c.3178G>A, XM_017007775.2:c.3178G>A, XM_017007775.1:c.3178G>A, XM_017007769.2:c.3142G>A, XM_017007769.1:c.3142G>A, NM_001306215.2:c.3178G>A, NM_001306215.1:c.3178G>A, XM_047449636.1:c.2476G>A, NM_001410850.1:c.3178G>A, XM_047449634.1:c.3142G>A, XM_047449635.1:c.2938G>A, XM_047449637.1:c.3178G>A, XM_047449638.1:c.3172G>A, XM_047449639.1:c.2944G>A, NP_849157.2:p.Glu1060Lys, XP_011529936.1:p.Glu1060Lys, XP_011529937.1:p.Glu1048Lys, XP_016863257.1:p.Glu1058Lys, XP_016863259.1:p.Glu982Lys, XP_016863266.1:p.Glu471Lys, XP_011529947.1:p.Glu392Lys, XP_016863264.1:p.Glu1060Lys, XP_016863258.1:p.Glu1048Lys, NP_001293144.1:p.Glu1060Lys, XP_047305592.1:p.Glu826Lys, XP_047305590.1:p.Glu1048Lys, XP_047305591.1:p.Glu980Lys, XP_047305593.1:p.Glu1060Lys, XP_047305594.1:p.Glu1058Lys, XP_047305595.1:p.Glu982Lys

        4.

        rs1489646649 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          4:145761466 (GRCh38)
          4:146682618 (GRCh37)
          Canonical SPDI:
          NC_000004.12:145761465:G:A
          Gene:
          ZNF827 (Varview), C4orf51 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:

          5.

          rs1488330261 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            4:145761555 (GRCh38)
            4:146682707 (GRCh37)
            Canonical SPDI:
            NC_000004.12:145761554:C:G
            Gene:
            ZNF827 (Varview), C4orf51 (Varview)
            Functional Consequence:
            missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000004.12:g.145761555C>G, NC_000004.11:g.146682707C>G, NM_178835.5:c.*82G>C, NM_178835.4:c.*82G>C, NM_178835.3:c.*82G>C, XM_011531634.4:c.3274G>C, XM_011531635.3:c.3238G>C, XM_011531635.2:c.3238G>C, XM_011531635.1:c.3238G>C, XM_017007768.3:c.3268G>C, XM_017007768.2:c.3268G>C, XM_017007768.1:c.3268G>C, XM_017007770.3:c.3040G>C, XM_017007770.2:c.3040G>C, XM_017007770.1:c.3040G>C, XM_017007777.3:c.1507G>C, XM_017007777.2:c.1507G>C, XM_017007777.1:c.1507G>C, XM_011531645.3:c.1270G>C, XM_011531645.2:c.1270G>C, XM_011531645.1:c.1270G>C, XM_017007769.2:c.3238G>C, XM_017007769.1:c.3238G>C, NM_001306215.2:c.*61G>C, NM_001306215.1:c.*61G>C, XM_047449636.1:c.2572G>C, NM_001410850.1:c.3274G>C, XM_047449634.1:c.3238G>C, XM_047449635.1:c.3034G>C, XP_011529936.1:p.Glu1092Gln, XP_011529937.1:p.Glu1080Gln, XP_016863257.1:p.Glu1090Gln, XP_016863259.1:p.Glu1014Gln, XP_016863266.1:p.Glu503Gln, XP_011529947.1:p.Glu424Gln, XP_016863258.1:p.Glu1080Gln, XP_047305592.1:p.Glu858Gln, XP_047305590.1:p.Glu1080Gln, XP_047305591.1:p.Glu1012Gln

            6.

            rs1488234400 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              4:145760911 (GRCh38)
              4:146682063 (GRCh37)
              Canonical SPDI:
              NC_000004.12:145760910:C:T
              Gene:
              ZNF827 (Varview), C4orf51 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency
              MAF:
              T=0.00001/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.145760911C>T, NC_000004.11:g.146682063C>T, NM_178835.5:c.*726G>A, NM_178835.4:c.*726G>A, NM_178835.3:c.*726G>A, XM_011531634.4:c.3918G>A, XM_011531635.3:c.3882G>A, XM_011531635.2:c.3882G>A, XM_011531635.1:c.3882G>A, XM_017007768.3:c.3912G>A, XM_017007768.2:c.3912G>A, XM_017007768.1:c.3912G>A, XM_017007770.3:c.3684G>A, XM_017007770.2:c.3684G>A, XM_017007770.1:c.3684G>A, XM_017007777.3:c.2151G>A, XM_017007777.2:c.2151G>A, XM_017007777.1:c.2151G>A, XM_011531645.3:c.1914G>A, XM_011531645.2:c.1914G>A, XM_011531645.1:c.1914G>A, XM_017007769.2:c.3882G>A, XM_017007769.1:c.3882G>A, NM_001306215.2:c.*705G>A, NM_001306215.1:c.*705G>A, XM_047449636.1:c.3216G>A, NM_001410850.1:c.3918G>A, XM_047449634.1:c.3882G>A, XM_047449635.1:c.3678G>A, XP_011529936.1:p.Met1306Ile, XP_011529937.1:p.Met1294Ile, XP_016863257.1:p.Met1304Ile, XP_016863259.1:p.Met1228Ile, XP_016863266.1:p.Met717Ile, XP_011529947.1:p.Met638Ile, XP_016863258.1:p.Met1294Ile, XP_047305592.1:p.Met1072Ile, XP_047305590.1:p.Met1294Ile, XP_047305591.1:p.Met1226Ile

              7.

              rs1488055157 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:145849501 (GRCh38)
                4:146770653 (GRCh37)
                Canonical SPDI:
                NC_000004.12:145849500:A:G
                Gene:
                ZNF827 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:
                NC_000004.12:g.145849501A>G, NC_000004.11:g.146770653A>G, NM_178835.5:c.2042T>C, NM_178835.4:c.2042T>C, NM_178835.3:c.2042T>C, XM_011531634.4:c.2042T>C, XM_011531635.3:c.2006T>C, XM_011531635.2:c.2006T>C, XM_011531635.1:c.2006T>C, XM_017007768.3:c.2036T>C, XM_017007768.2:c.2036T>C, XM_017007768.1:c.2036T>C, XM_017007770.3:c.1808T>C, XM_017007770.2:c.1808T>C, XM_017007770.1:c.1808T>C, XM_017007777.3:c.275T>C, XM_017007777.2:c.275T>C, XM_017007777.1:c.275T>C, XM_011531645.3:c.38T>C, XM_011531645.2:c.38T>C, XM_011531645.1:c.38T>C, XM_017007775.3:c.2042T>C, XM_017007775.2:c.2042T>C, XM_017007775.1:c.2042T>C, XM_017007776.3:c.2042T>C, XM_017007776.2:c.2042T>C, XM_017007776.1:c.2042T>C, XM_017007769.2:c.2006T>C, XM_017007769.1:c.2006T>C, NM_001306215.2:c.2042T>C, NM_001306215.1:c.2042T>C, XM_047449636.1:c.1340T>C, NM_001410850.1:c.2042T>C, XM_047449634.1:c.2006T>C, XM_047449635.1:c.1802T>C, XM_047449640.1:c.2042T>C, XM_047449637.1:c.2042T>C, XM_047449638.1:c.2036T>C, XM_047449639.1:c.1808T>C, NP_849157.2:p.Ile681Thr, XP_011529936.1:p.Ile681Thr, XP_011529937.1:p.Ile669Thr, XP_016863257.1:p.Ile679Thr, XP_016863259.1:p.Ile603Thr, XP_016863266.1:p.Ile92Thr, XP_011529947.1:p.Ile13Thr, XP_016863264.1:p.Ile681Thr, XP_016863265.1:p.Ile681Thr, XP_016863258.1:p.Ile669Thr, NP_001293144.1:p.Ile681Thr, XP_047305592.1:p.Ile447Thr, XP_047305590.1:p.Ile669Thr, XP_047305591.1:p.Ile601Thr, XP_047305596.1:p.Ile681Thr, XP_047305593.1:p.Ile681Thr, XP_047305594.1:p.Ile679Thr, XP_047305595.1:p.Ile603Thr

                8.

                rs1487698100 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  4:145823425 (GRCh38)
                  4:146744577 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:145823424:G:A
                  Gene:
                  ZNF827 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000019/5 (TOPMED)
                  A=0.000212/4 (TOMMO)
                  HGVS:
                  NC_000004.12:g.145823425G>A, NC_000004.11:g.146744577G>A, NM_178835.5:c.2380C>T, NM_178835.4:c.2380C>T, NM_178835.3:c.2380C>T, XM_011531634.4:c.2380C>T, XM_011531635.3:c.2344C>T, XM_011531635.2:c.2344C>T, XM_011531635.1:c.2344C>T, XM_017007768.3:c.2374C>T, XM_017007768.2:c.2374C>T, XM_017007768.1:c.2374C>T, XM_017007770.3:c.2146C>T, XM_017007770.2:c.2146C>T, XM_017007770.1:c.2146C>T, XM_017007777.3:c.613C>T, XM_017007777.2:c.613C>T, XM_017007777.1:c.613C>T, XM_011531645.3:c.376C>T, XM_011531645.2:c.376C>T, XM_011531645.1:c.376C>T, XM_017007775.3:c.2380C>T, XM_017007775.2:c.2380C>T, XM_017007775.1:c.2380C>T, XM_017007776.3:c.2380C>T, XM_017007776.2:c.2380C>T, XM_017007776.1:c.2380C>T, XM_017007769.2:c.2344C>T, XM_017007769.1:c.2344C>T, NM_001306215.2:c.2380C>T, NM_001306215.1:c.2380C>T, XM_047449636.1:c.1678C>T, NM_001410850.1:c.2380C>T, XM_047449634.1:c.2344C>T, XM_047449635.1:c.2140C>T, XM_047449640.1:c.2380C>T, XM_047449637.1:c.2380C>T, XM_047449638.1:c.2374C>T, XM_047449639.1:c.2146C>T, NP_849157.2:p.Pro794Ser, XP_011529936.1:p.Pro794Ser, XP_011529937.1:p.Pro782Ser, XP_016863257.1:p.Pro792Ser, XP_016863259.1:p.Pro716Ser, XP_016863266.1:p.Pro205Ser, XP_011529947.1:p.Pro126Ser, XP_016863264.1:p.Pro794Ser, XP_016863265.1:p.Pro794Ser, XP_016863258.1:p.Pro782Ser, NP_001293144.1:p.Pro794Ser, XP_047305592.1:p.Pro560Ser, XP_047305590.1:p.Pro782Ser, XP_047305591.1:p.Pro714Ser, XP_047305596.1:p.Pro794Ser, XP_047305593.1:p.Pro794Ser, XP_047305594.1:p.Pro792Ser, XP_047305595.1:p.Pro716Ser

                  9.

                  rs1487278209 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    4:145775935 (GRCh38)
                    4:146697087 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:145775934:C:T
                    Gene:
                    ZNF827 (Varview), C4orf51 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000004.12:g.145775935C>T, NC_000004.11:g.146697087C>T, NM_178835.5:c.2547G>A, NM_178835.4:c.2547G>A, NM_178835.3:c.2547G>A, XM_011531634.4:c.2547G>A, XM_011531635.3:c.2511G>A, XM_011531635.2:c.2511G>A, XM_011531635.1:c.2511G>A, XM_017007768.3:c.2541G>A, XM_017007768.2:c.2541G>A, XM_017007768.1:c.2541G>A, XM_017007770.3:c.2313G>A, XM_017007770.2:c.2313G>A, XM_017007770.1:c.2313G>A, XM_017007777.3:c.780G>A, XM_017007777.2:c.780G>A, XM_017007777.1:c.780G>A, XM_011531645.3:c.543G>A, XM_011531645.2:c.543G>A, XM_011531645.1:c.543G>A, XM_017007775.3:c.2547G>A, XM_017007775.2:c.2547G>A, XM_017007775.1:c.2547G>A, XM_017007769.2:c.2511G>A, XM_017007769.1:c.2511G>A, NM_001306215.2:c.2547G>A, NM_001306215.1:c.2547G>A, XM_047449636.1:c.1845G>A, NM_001410850.1:c.2547G>A, XM_047449634.1:c.2511G>A, XM_047449635.1:c.2307G>A, XM_047449637.1:c.2547G>A, XM_047449638.1:c.2541G>A, XM_047449639.1:c.2313G>A

                    10.

                    rs1486402513 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:145849335 (GRCh38)
                      4:146770487 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:145849334:G:A
                      Gene:
                      ZNF827 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000004.12:g.145849335G>A, NC_000004.11:g.146770487G>A, NM_178835.5:c.2208C>T, NM_178835.4:c.2208C>T, NM_178835.3:c.2208C>T, XM_011531634.4:c.2208C>T, XM_011531635.3:c.2172C>T, XM_011531635.2:c.2172C>T, XM_011531635.1:c.2172C>T, XM_017007768.3:c.2202C>T, XM_017007768.2:c.2202C>T, XM_017007768.1:c.2202C>T, XM_017007770.3:c.1974C>T, XM_017007770.2:c.1974C>T, XM_017007770.1:c.1974C>T, XM_017007777.3:c.441C>T, XM_017007777.2:c.441C>T, XM_017007777.1:c.441C>T, XM_011531645.3:c.204C>T, XM_011531645.2:c.204C>T, XM_011531645.1:c.204C>T, XM_017007775.3:c.2208C>T, XM_017007775.2:c.2208C>T, XM_017007775.1:c.2208C>T, XM_017007776.3:c.2208C>T, XM_017007776.2:c.2208C>T, XM_017007776.1:c.2208C>T, XM_017007769.2:c.2172C>T, XM_017007769.1:c.2172C>T, NM_001306215.2:c.2208C>T, NM_001306215.1:c.2208C>T, XM_047449636.1:c.1506C>T, NM_001410850.1:c.2208C>T, XM_047449634.1:c.2172C>T, XM_047449635.1:c.1968C>T, XM_047449640.1:c.2208C>T, XM_047449637.1:c.2208C>T, XM_047449638.1:c.2202C>T, XM_047449639.1:c.1974C>T

                      11.

                      rs1483716851 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        4:145765722 (GRCh38)
                        4:146686874 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:145765721:G:T
                        Gene:
                        ZNF827 (Varview), C4orf51 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000004.12:g.145765722G>T, NC_000004.11:g.146686874G>T, NM_178835.5:c.2877C>A, NM_178835.4:c.2877C>A, NM_178835.3:c.2877C>A, XM_011531634.4:c.2877C>A, XM_011531635.3:c.2841C>A, XM_011531635.2:c.2841C>A, XM_011531635.1:c.2841C>A, XM_017007768.3:c.2871C>A, XM_017007768.2:c.2871C>A, XM_017007768.1:c.2871C>A, XM_017007770.3:c.2643C>A, XM_017007770.2:c.2643C>A, XM_017007770.1:c.2643C>A, XM_017007777.3:c.1110C>A, XM_017007777.2:c.1110C>A, XM_017007777.1:c.1110C>A, XM_011531645.3:c.873C>A, XM_011531645.2:c.873C>A, XM_011531645.1:c.873C>A, XM_017007775.3:c.2877C>A, XM_017007775.2:c.2877C>A, XM_017007775.1:c.2877C>A, XM_017007769.2:c.2841C>A, XM_017007769.1:c.2841C>A, NM_001306215.2:c.2877C>A, NM_001306215.1:c.2877C>A, XM_047449636.1:c.2175C>A, NM_001410850.1:c.2877C>A, XM_047449634.1:c.2841C>A, XM_047449635.1:c.2637C>A, XM_047449637.1:c.2877C>A, XM_047449638.1:c.2871C>A, XM_047449639.1:c.2643C>A

                        12.

                        rs1481091555 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:145761311 (GRCh38)
                          4:146682463 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:145761310:T:C
                          Gene:
                          ZNF827 (Varview), C4orf51 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000004.12:g.145761311T>C, NC_000004.11:g.146682463T>C, NM_178835.5:c.*326A>G, NM_178835.4:c.*326A>G, NM_178835.3:c.*326A>G, XM_011531634.4:c.3518A>G, XM_011531635.3:c.3482A>G, XM_011531635.2:c.3482A>G, XM_011531635.1:c.3482A>G, XM_017007768.3:c.3512A>G, XM_017007768.2:c.3512A>G, XM_017007768.1:c.3512A>G, XM_017007770.3:c.3284A>G, XM_017007770.2:c.3284A>G, XM_017007770.1:c.3284A>G, XM_017007777.3:c.1751A>G, XM_017007777.2:c.1751A>G, XM_017007777.1:c.1751A>G, XM_011531645.3:c.1514A>G, XM_011531645.2:c.1514A>G, XM_011531645.1:c.1514A>G, XM_017007769.2:c.3482A>G, XM_017007769.1:c.3482A>G, NM_001306215.2:c.*305A>G, NM_001306215.1:c.*305A>G, XM_047449636.1:c.2816A>G, NM_001410850.1:c.3518A>G, XM_047449634.1:c.3482A>G, XM_047449635.1:c.3278A>G, XP_011529936.1:p.Asn1173Ser, XP_011529937.1:p.Asn1161Ser, XP_016863257.1:p.Asn1171Ser, XP_016863259.1:p.Asn1095Ser, XP_016863266.1:p.Asn584Ser, XP_011529947.1:p.Asn505Ser, XP_016863258.1:p.Asn1161Ser, XP_047305592.1:p.Asn939Ser, XP_047305590.1:p.Asn1161Ser, XP_047305591.1:p.Asn1093Ser

                          13.

                          rs1478583447 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            4:145765084 (GRCh38)
                            4:146686236 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:145765083:C:T
                            Gene:
                            ZNF827 (Varview), C4orf51 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.145765084C>T, NC_000004.11:g.146686236C>T, NM_178835.5:c.3134G>A, NM_178835.4:c.3134G>A, NM_178835.3:c.3134G>A, XM_011531634.4:c.3134G>A, XM_011531635.3:c.3098G>A, XM_011531635.2:c.3098G>A, XM_011531635.1:c.3098G>A, XM_017007768.3:c.3128G>A, XM_017007768.2:c.3128G>A, XM_017007768.1:c.3128G>A, XM_017007770.3:c.2900G>A, XM_017007770.2:c.2900G>A, XM_017007770.1:c.2900G>A, XM_017007777.3:c.1367G>A, XM_017007777.2:c.1367G>A, XM_017007777.1:c.1367G>A, XM_011531645.3:c.1130G>A, XM_011531645.2:c.1130G>A, XM_011531645.1:c.1130G>A, XM_017007775.3:c.3134G>A, XM_017007775.2:c.3134G>A, XM_017007775.1:c.3134G>A, XM_017007769.2:c.3098G>A, XM_017007769.1:c.3098G>A, NM_001306215.2:c.3134G>A, NM_001306215.1:c.3134G>A, XM_047449636.1:c.2432G>A, NM_001410850.1:c.3134G>A, XM_047449634.1:c.3098G>A, XM_047449635.1:c.2894G>A, XM_047449637.1:c.3134G>A, XM_047449638.1:c.3128G>A, XM_047449639.1:c.2900G>A, NP_849157.2:p.Arg1045Gln, XP_011529936.1:p.Arg1045Gln, XP_011529937.1:p.Arg1033Gln, XP_016863257.1:p.Arg1043Gln, XP_016863259.1:p.Arg967Gln, XP_016863266.1:p.Arg456Gln, XP_011529947.1:p.Arg377Gln, XP_016863264.1:p.Arg1045Gln, XP_016863258.1:p.Arg1033Gln, NP_001293144.1:p.Arg1045Gln, XP_047305592.1:p.Arg811Gln, XP_047305590.1:p.Arg1033Gln, XP_047305591.1:p.Arg965Gln, XP_047305593.1:p.Arg1045Gln, XP_047305594.1:p.Arg1043Gln, XP_047305595.1:p.Arg967Gln

                            14.

                            rs1476388903 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:145870357 (GRCh38)
                              4:146791509 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:145870356:C:T
                              Gene:
                              ZNF827 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1476237158 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                4:145775909 (GRCh38)
                                4:146697061 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:145775908:G:T
                                Gene:
                                ZNF827 (Varview), C4orf51 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000004.12:g.145775909G>T, NC_000004.11:g.146697061G>T, NM_178835.5:c.2573C>A, NM_178835.4:c.2573C>A, NM_178835.3:c.2573C>A, XM_011531634.4:c.2573C>A, XM_011531635.3:c.2537C>A, XM_011531635.2:c.2537C>A, XM_011531635.1:c.2537C>A, XM_017007768.3:c.2567C>A, XM_017007768.2:c.2567C>A, XM_017007768.1:c.2567C>A, XM_017007770.3:c.2339C>A, XM_017007770.2:c.2339C>A, XM_017007770.1:c.2339C>A, XM_017007777.3:c.806C>A, XM_017007777.2:c.806C>A, XM_017007777.1:c.806C>A, XM_011531645.3:c.569C>A, XM_011531645.2:c.569C>A, XM_011531645.1:c.569C>A, XM_017007775.3:c.2573C>A, XM_017007775.2:c.2573C>A, XM_017007775.1:c.2573C>A, XM_017007769.2:c.2537C>A, XM_017007769.1:c.2537C>A, NM_001306215.2:c.2573C>A, NM_001306215.1:c.2573C>A, XM_047449636.1:c.1871C>A, NM_001410850.1:c.2573C>A, XM_047449634.1:c.2537C>A, XM_047449635.1:c.2333C>A, XM_047449637.1:c.2573C>A, XM_047449638.1:c.2567C>A, XM_047449639.1:c.2339C>A, NP_849157.2:p.Ala858Glu, XP_011529936.1:p.Ala858Glu, XP_011529937.1:p.Ala846Glu, XP_016863257.1:p.Ala856Glu, XP_016863259.1:p.Ala780Glu, XP_016863266.1:p.Ala269Glu, XP_011529947.1:p.Ala190Glu, XP_016863264.1:p.Ala858Glu, XP_016863258.1:p.Ala846Glu, NP_001293144.1:p.Ala858Glu, XP_047305592.1:p.Ala624Glu, XP_047305590.1:p.Ala846Glu, XP_047305591.1:p.Ala778Glu, XP_047305593.1:p.Ala858Glu, XP_047305594.1:p.Ala856Glu, XP_047305595.1:p.Ala780Glu

                                16.

                                rs1475062770 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:145765738 (GRCh38)
                                  4:146686890 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:145765737:C:T
                                  Gene:
                                  ZNF827 (Varview), C4orf51 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000019/5 (TOPMED)
                                  HGVS:
                                  NC_000004.12:g.145765738C>T, NC_000004.11:g.146686890C>T, NM_178835.5:c.2861G>A, NM_178835.4:c.2861G>A, NM_178835.3:c.2861G>A, XM_011531634.4:c.2861G>A, XM_011531635.3:c.2825G>A, XM_011531635.2:c.2825G>A, XM_011531635.1:c.2825G>A, XM_017007768.3:c.2855G>A, XM_017007768.2:c.2855G>A, XM_017007768.1:c.2855G>A, XM_017007770.3:c.2627G>A, XM_017007770.2:c.2627G>A, XM_017007770.1:c.2627G>A, XM_017007777.3:c.1094G>A, XM_017007777.2:c.1094G>A, XM_017007777.1:c.1094G>A, XM_011531645.3:c.857G>A, XM_011531645.2:c.857G>A, XM_011531645.1:c.857G>A, XM_017007775.3:c.2861G>A, XM_017007775.2:c.2861G>A, XM_017007775.1:c.2861G>A, XM_017007769.2:c.2825G>A, XM_017007769.1:c.2825G>A, NM_001306215.2:c.2861G>A, NM_001306215.1:c.2861G>A, XM_047449636.1:c.2159G>A, NM_001410850.1:c.2861G>A, XM_047449634.1:c.2825G>A, XM_047449635.1:c.2621G>A, XM_047449637.1:c.2861G>A, XM_047449638.1:c.2855G>A, XM_047449639.1:c.2627G>A, NP_849157.2:p.Gly954Glu, XP_011529936.1:p.Gly954Glu, XP_011529937.1:p.Gly942Glu, XP_016863257.1:p.Gly952Glu, XP_016863259.1:p.Gly876Glu, XP_016863266.1:p.Gly365Glu, XP_011529947.1:p.Gly286Glu, XP_016863264.1:p.Gly954Glu, XP_016863258.1:p.Gly942Glu, NP_001293144.1:p.Gly954Glu, XP_047305592.1:p.Gly720Glu, XP_047305590.1:p.Gly942Glu, XP_047305591.1:p.Gly874Glu, XP_047305593.1:p.Gly954Glu, XP_047305594.1:p.Gly952Glu, XP_047305595.1:p.Gly876Glu

                                  17.

                                  rs1473434378 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    4:145779388 (GRCh38)
                                    4:146700540 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:145779387:A:T
                                    Gene:
                                    ZNF827 (Varview), C4orf51 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000004.12:g.145779388A>T, NC_000004.11:g.146700540A>T, NM_178835.5:c.2507T>A, NM_178835.4:c.2507T>A, NM_178835.3:c.2507T>A, XM_011531634.4:c.2507T>A, XM_011531635.3:c.2471T>A, XM_011531635.2:c.2471T>A, XM_011531635.1:c.2471T>A, XM_017007768.3:c.2501T>A, XM_017007768.2:c.2501T>A, XM_017007768.1:c.2501T>A, XM_017007770.3:c.2273T>A, XM_017007770.2:c.2273T>A, XM_017007770.1:c.2273T>A, XM_017007777.3:c.740T>A, XM_017007777.2:c.740T>A, XM_017007777.1:c.740T>A, XM_011531645.3:c.503T>A, XM_011531645.2:c.503T>A, XM_011531645.1:c.503T>A, XM_017007775.3:c.2507T>A, XM_017007775.2:c.2507T>A, XM_017007775.1:c.2507T>A, XM_017007769.2:c.2471T>A, XM_017007769.1:c.2471T>A, NM_001306215.2:c.2507T>A, NM_001306215.1:c.2507T>A, XM_047449636.1:c.1805T>A, NM_001410850.1:c.2507T>A, XM_047449634.1:c.2471T>A, XM_047449635.1:c.2267T>A, XM_047449637.1:c.2507T>A, XM_047449638.1:c.2501T>A, XM_047449639.1:c.2273T>A, NP_849157.2:p.Leu836His, XP_011529936.1:p.Leu836His, XP_011529937.1:p.Leu824His, XP_016863257.1:p.Leu834His, XP_016863259.1:p.Leu758His, XP_016863266.1:p.Leu247His, XP_011529947.1:p.Leu168His, XP_016863264.1:p.Leu836His, XP_016863258.1:p.Leu824His, NP_001293144.1:p.Leu836His, XP_047305592.1:p.Leu602His, XP_047305590.1:p.Leu824His, XP_047305591.1:p.Leu756His, XP_047305593.1:p.Leu836His, XP_047305594.1:p.Leu834His, XP_047305595.1:p.Leu758His

                                    18.

                                    rs1469893563 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      4:145870448 (GRCh38)
                                      4:146791600 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:145870447:T:C
                                      Gene:
                                      ZNF827 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000004.12:g.145870448T>C, NC_000004.11:g.146791600T>C, NM_178835.5:c.1778A>G, NM_178835.4:c.1778A>G, NM_178835.3:c.1778A>G, XM_011531634.4:c.1778A>G, XM_011531635.3:c.1742A>G, XM_011531635.2:c.1742A>G, XM_011531635.1:c.1742A>G, XM_017007768.3:c.1772A>G, XM_017007768.2:c.1772A>G, XM_017007768.1:c.1772A>G, XM_017007777.3:c.11A>G, XM_017007777.2:c.11A>G, XM_017007777.1:c.11A>G, XM_017007775.3:c.1778A>G, XM_017007775.2:c.1778A>G, XM_017007775.1:c.1778A>G, XM_017007776.3:c.1778A>G, XM_017007776.2:c.1778A>G, XM_017007776.1:c.1778A>G, XM_017007769.2:c.1742A>G, XM_017007769.1:c.1742A>G, NM_001306215.2:c.1778A>G, NM_001306215.1:c.1778A>G, XM_047449636.1:c.1076A>G, NM_001410850.1:c.1778A>G, XM_047449634.1:c.1742A>G, XM_047449640.1:c.1778A>G, XM_047449637.1:c.1778A>G, XM_047449638.1:c.1772A>G, NP_849157.2:p.Asn593Ser, XP_011529936.1:p.Asn593Ser, XP_011529937.1:p.Asn581Ser, XP_016863257.1:p.Asn591Ser, XP_016863266.1:p.Asn4Ser, XP_016863264.1:p.Asn593Ser, XP_016863265.1:p.Asn593Ser, XP_016863258.1:p.Asn581Ser, NP_001293144.1:p.Asn593Ser, XP_047305592.1:p.Asn359Ser, XP_047305590.1:p.Asn581Ser, XP_047305596.1:p.Asn593Ser, XP_047305593.1:p.Asn593Ser, XP_047305594.1:p.Asn591Ser

                                      19.

                                      rs1469305682 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        4:145760932 (GRCh38)
                                        4:146682084 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:145760931:G:A,NC_000004.12:145760931:G:C
                                        Gene:
                                        ZNF827 (Varview), C4orf51 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        NC_000004.12:g.145760932G>A, NC_000004.12:g.145760932G>C, NC_000004.11:g.146682084G>A, NC_000004.11:g.146682084G>C, NM_178835.5:c.*705C>T, NM_178835.5:c.*705C>G, NM_178835.4:c.*705C>T, NM_178835.4:c.*705C>G, NM_178835.3:c.*705C>T, NM_178835.3:c.*705C>G, XM_011531634.4:c.3897C>T, XM_011531634.4:c.3897C>G, XM_011531635.3:c.3861C>T, XM_011531635.3:c.3861C>G, XM_011531635.2:c.3861C>T, XM_011531635.2:c.3861C>G, XM_011531635.1:c.3861C>T, XM_011531635.1:c.3861C>G, XM_017007768.3:c.3891C>T, XM_017007768.3:c.3891C>G, XM_017007768.2:c.3891C>T, XM_017007768.2:c.3891C>G, XM_017007768.1:c.3891C>T, XM_017007768.1:c.3891C>G, XM_017007770.3:c.3663C>T, XM_017007770.3:c.3663C>G, XM_017007770.2:c.3663C>T, XM_017007770.2:c.3663C>G, XM_017007770.1:c.3663C>T, XM_017007770.1:c.3663C>G, XM_017007777.3:c.2130C>T, XM_017007777.3:c.2130C>G, XM_017007777.2:c.2130C>T, XM_017007777.2:c.2130C>G, XM_017007777.1:c.2130C>T, XM_017007777.1:c.2130C>G, XM_011531645.3:c.1893C>T, XM_011531645.3:c.1893C>G, XM_011531645.2:c.1893C>T, XM_011531645.2:c.1893C>G, XM_011531645.1:c.1893C>T, XM_011531645.1:c.1893C>G, XM_017007769.2:c.3861C>T, XM_017007769.2:c.3861C>G, XM_017007769.1:c.3861C>T, XM_017007769.1:c.3861C>G, NM_001306215.2:c.*684C>T, NM_001306215.2:c.*684C>G, NM_001306215.1:c.*684C>T, NM_001306215.1:c.*684C>G, XM_047449636.1:c.3195C>T, XM_047449636.1:c.3195C>G, NM_001410850.1:c.3897C>T, NM_001410850.1:c.3897C>G, XM_047449634.1:c.3861C>T, XM_047449634.1:c.3861C>G, XM_047449635.1:c.3657C>T, XM_047449635.1:c.3657C>G

                                        20.

                                        rs1463525256 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          4:145870305 (GRCh38)
                                          4:146791457 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:145870304:T:C
                                          Gene:
                                          ZNF827 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000004.12:g.145870305T>C, NC_000004.11:g.146791457T>C, NM_178835.5:c.1921A>G, NM_178835.4:c.1921A>G, NM_178835.3:c.1921A>G, XM_011531634.4:c.1921A>G, XM_011531635.3:c.1885A>G, XM_011531635.2:c.1885A>G, XM_011531635.1:c.1885A>G, XM_017007768.3:c.1915A>G, XM_017007768.2:c.1915A>G, XM_017007768.1:c.1915A>G, XM_017007777.3:c.154A>G, XM_017007777.2:c.154A>G, XM_017007777.1:c.154A>G, XM_017007775.3:c.1921A>G, XM_017007775.2:c.1921A>G, XM_017007775.1:c.1921A>G, XM_017007776.3:c.1921A>G, XM_017007776.2:c.1921A>G, XM_017007776.1:c.1921A>G, XM_017007769.2:c.1885A>G, XM_017007769.1:c.1885A>G, NM_001306215.2:c.1921A>G, NM_001306215.1:c.1921A>G, XM_047449636.1:c.1219A>G, NM_001410850.1:c.1921A>G, XM_047449634.1:c.1885A>G, XM_047449640.1:c.1921A>G, XM_047449637.1:c.1921A>G, XM_047449638.1:c.1915A>G, NP_849157.2:p.Ser641Gly, XP_011529936.1:p.Ser641Gly, XP_011529937.1:p.Ser629Gly, XP_016863257.1:p.Ser639Gly, XP_016863266.1:p.Ser52Gly, XP_016863264.1:p.Ser641Gly, XP_016863265.1:p.Ser641Gly, XP_016863258.1:p.Ser629Gly, NP_001293144.1:p.Ser641Gly, XP_047305592.1:p.Ser407Gly, XP_047305590.1:p.Ser629Gly, XP_047305596.1:p.Ser641Gly, XP_047305593.1:p.Ser641Gly, XP_047305594.1:p.Ser639Gly

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...