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Links from Protein

Items: 1 to 20 of 382

1.
2.

rs1488263274 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    4:104490888 (GRCh38)
    4:105412045 (GRCh37)
    Canonical SPDI:
    NC_000004.12:104490887:C:T
    Gene:
    CXXC4 (Varview), CXXC4-AS1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    3.

    rs1488224355 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      4:104491359 (GRCh38)
      4:105412516 (GRCh37)
      Canonical SPDI:
      NC_000004.12:104491358:G:A
      Gene:
      CXXC4 (Varview), CXXC4-AS1 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,synonymous_variant
      HGVS:
      4.

      rs1488065123 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        4:104490897 (GRCh38)
        4:105412054 (GRCh37)
        Canonical SPDI:
        NC_000004.12:104490896:C:T
        Gene:
        CXXC4 (Varview), CXXC4-AS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        5.

        rs1487176167 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          4:104490966 (GRCh38)
          4:105412123 (GRCh37)
          Canonical SPDI:
          NC_000004.12:104490965:G:A
          Gene:
          CXXC4 (Varview), CXXC4-AS1 (Varview)
          Functional Consequence:
          intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000008/2 (TOPMED)
          HGVS:
          6.

          rs1482545527 has merged into rs924648643 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GCCGCCGCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCC [Show Flanks]
            Chromosome:
            4:104491437 (GRCh38)
            4:105412594 (GRCh37)
            Canonical SPDI:
            NC_000004.12:104491428:CCGCCGCCGCCGCCGCCGCCGCC:CCGCCGCC,NC_000004.12:104491428:CCGCCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCC,NC_000004.12:104491428:CCGCCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000004.12:104491428:CCGCCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000004.12:104491428:CCGCCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCC,NC_000004.12:104491428:CCGCCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000004.12:104491428:CCGCCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000004.12:104491428:CCGCCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC
            Gene:
            CXXC4 (Varview), CXXC4-AS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,inframe_deletion,intron_variant,inframe_insertion
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCGCCGCCGCC=0./0 (ALFA)
            -=0.00334/2 (NorthernSweden)
            HGVS:
            NC_000004.12:g.104491431GCC[2], NC_000004.12:g.104491431GCC[3], NC_000004.12:g.104491431GCC[4], NC_000004.12:g.104491431GCC[5], NC_000004.12:g.104491431GCC[6], NC_000004.12:g.104491431GCC[8], NC_000004.12:g.104491431GCC[9], NC_000004.12:g.104491431GCC[10], NC_000004.11:g.105412588GCC[2], NC_000004.11:g.105412588GCC[3], NC_000004.11:g.105412588GCC[4], NC_000004.11:g.105412588GCC[5], NC_000004.11:g.105412588GCC[6], NC_000004.11:g.105412588GCC[8], NC_000004.11:g.105412588GCC[9], NC_000004.11:g.105412588GCC[10], NM_025212.4:c.354CGG[2], NM_025212.4:c.354CGG[3], NM_025212.4:c.354CGG[4], NM_025212.4:c.354CGG[5], NM_025212.4:c.354CGG[6], NM_025212.4:c.354CGG[8], NM_025212.4:c.354CGG[9], NM_025212.4:c.354CGG[10], NM_025212.3:c.354CGG[2], NM_025212.3:c.354CGG[3], NM_025212.3:c.354CGG[4], NM_025212.3:c.354CGG[5], NM_025212.3:c.354CGG[6], NM_025212.3:c.354CGG[8], NM_025212.3:c.354CGG[9], NM_025212.3:c.354CGG[10], NM_025212.2:c.354CGG[2], NM_025212.2:c.354CGG[3], NM_025212.2:c.354CGG[4], NM_025212.2:c.354CGG[5], NM_025212.2:c.354CGG[6], NM_025212.2:c.354CGG[8], NM_025212.2:c.354CGG[9], NM_025212.2:c.354CGG[10], XM_011532284.3:c.354CGG[2], XM_011532284.3:c.354CGG[3], XM_011532284.3:c.354CGG[4], XM_011532284.3:c.354CGG[5], XM_011532284.3:c.354CGG[6], XM_011532284.3:c.354CGG[8], XM_011532284.3:c.354CGG[9], XM_011532284.3:c.354CGG[10], XM_011532284.2:c.354CGG[2], XM_011532284.2:c.354CGG[3], XM_011532284.2:c.354CGG[4], XM_011532284.2:c.354CGG[5], XM_011532284.2:c.354CGG[6], XM_011532284.2:c.354CGG[8], XM_011532284.2:c.354CGG[9], XM_011532284.2:c.354CGG[10], XM_011532284.1:c.354CGG[2], XM_011532284.1:c.354CGG[3], XM_011532284.1:c.354CGG[4], XM_011532284.1:c.354CGG[5], XM_011532284.1:c.354CGG[6], XM_011532284.1:c.354CGG[8], XM_011532284.1:c.354CGG[9], XM_011532284.1:c.354CGG[10], NP_079488.2:p.Gly130_Gly134del, NP_079488.2:p.Gly131_Gly134del, NP_079488.2:p.Gly132_Gly134del, NP_079488.2:p.Gly133_Gly134del, NP_079488.2:p.Gly134del, NP_079488.2:p.Gly134dup, NP_079488.2:p.Gly133_Gly134dup, NP_079488.2:p.Gly132_Gly134dup, XP_011530586.1:p.Gly130_Gly134del, XP_011530586.1:p.Gly131_Gly134del, XP_011530586.1:p.Gly132_Gly134del, XP_011530586.1:p.Gly133_Gly134del, XP_011530586.1:p.Gly134del, XP_011530586.1:p.Gly134dup, XP_011530586.1:p.Gly133_Gly134dup, XP_011530586.1:p.Gly132_Gly134dup
            7.

            rs1482287886 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              4:104491363 (GRCh38)
              4:105412520 (GRCh37)
              Canonical SPDI:
              NC_000004.12:104491362:G:A
              Gene:
              CXXC4 (Varview), CXXC4-AS1 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              8.

              rs1478823464 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                4:104491728 (GRCh38)
                4:105412885 (GRCh37)
                Canonical SPDI:
                NC_000004.12:104491727:G:A,NC_000004.12:104491727:G:C
                Gene:
                CXXC4 (Varview), CXXC4-AS1 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000043/1 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD_exomes)
                A=0.000021/3 (GnomAD)
                HGVS:
                9.

                rs1478786929 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ACCACCCCCGCCCCCGCCTCC>- [Show Flanks]
                  Chromosome:
                  4:104491410 (GRCh38)
                  4:105412567 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:104491407:CCACCACCCCCGCCCCCGCCTCC:CC
                  Gene:
                  CXXC4 (Varview), CXXC4-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,inframe_deletion,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CC=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  10.

                  rs1477634635 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    4:104491596 (GRCh38)
                    4:105412753 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:104491595:G:A,NC_000004.12:104491595:G:T
                    Gene:
                    CXXC4 (Varview), CXXC4-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD_exomes)
                    HGVS:
                    11.

                    rs1476268108 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      4:104491055 (GRCh38)
                      4:105412212 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:104491054:C:G
                      Gene:
                      CXXC4 (Varview), CXXC4-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1473120756 has merged into rs758745145 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CCACCGCCG>-,CCACCGCCGCCACCGCCG [Show Flanks]
                        Chromosome:
                        4:104491330 (GRCh38)
                        4:105412487 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:104491323:CCGCCGCCACCGCCG:CCGCCG,NC_000004.12:104491323:CCGCCGCCACCGCCG:CCGCCGCCACCGCCGCCACCGCCG
                        Gene:
                        CXXC4 (Varview), CXXC4-AS1 (Varview)
                        Functional Consequence:
                        inframe_deletion,inframe_insertion,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CCGCCGCCACCGCCGCCACCGCCG=0./0 (ALFA)
                        CCGCCGCCA=0.00001/2 (GnomAD_exomes)
                        CCGCCGCCA=0.000029/3 (ExAC)
                        HGVS:
                        13.

                        rs1467437549 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          4:104491608 (GRCh38)
                          4:105412765 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:104491607:G:A
                          Gene:
                          CXXC4 (Varview), CXXC4-AS1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000007/1 (GnomAD_exomes)
                          HGVS:
                          14.

                          rs1458879201 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:104491197 (GRCh38)
                            4:105412354 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:104491196:G:A
                            Gene:
                            CXXC4 (Varview), CXXC4-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            15.

                            rs1458817595 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              4:104491575 (GRCh38)
                              4:105412732 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:104491574:G:C,NC_000004.12:104491574:G:T
                              Gene:
                              CXXC4 (Varview), CXXC4-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              C=0.000016/2 (GnomAD_exomes)
                              C=0.000268/71 (TOPMED)
                              HGVS:
                              16.

                              rs1457559925 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:104490932 (GRCh38)
                                4:105412089 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:104490931:A:G
                                Gene:
                                CXXC4 (Varview), CXXC4-AS1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000031/1 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                17.

                                rs1456255947 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:104490852 (GRCh38)
                                  4:105412009 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:104490851:G:A
                                  Gene:
                                  CXXC4 (Varview), CXXC4-AS1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000031/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000035/1 (TOMMO)
                                  HGVS:
                                  18.

                                  rs1456235520 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->CTG [Show Flanks]
                                    Chromosome:
                                    4:104491580 (GRCh38)
                                    4:105412738 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:104491580:GCTGCTG:GCTGCTGCTG
                                    Gene:
                                    CXXC4 (Varview), CXXC4-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,inframe_insertion,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GCTGCTGCTG=0./0 (ALFA)
                                    GCT=0.000008/2 (TOPMED)
                                    GCT=0.000015/2 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1452570947 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CGGCGGCGGAGGAGG>- [Show Flanks]
                                      Chromosome:
                                      4:104491379 (GRCh38)
                                      4:105412536 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:104491370:GGAGGAGGCGGCGGCGGAGGAGG:GGAGGAGG
                                      Gene:
                                      CXXC4 (Varview), CXXC4-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,inframe_deletion,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GGAGGAGG=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000008/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1451698967 has merged into rs765810663 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GCGGCGGCG>-,GCG,GCGGCG,GCGGCGGCGGCG,GCGGCGGCGGCGGCG [Show Flanks]
                                        Chromosome:
                                        4:104491573 (GRCh38)
                                        4:105412730 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:104491566:GCGGCGGCGGCGGCG:GCGGCG,NC_000004.12:104491566:GCGGCGGCGGCGGCG:GCGGCGGCG,NC_000004.12:104491566:GCGGCGGCGGCGGCG:GCGGCGGCGGCG,NC_000004.12:104491566:GCGGCGGCGGCGGCG:GCGGCGGCGGCGGCGGCG,NC_000004.12:104491566:GCGGCGGCGGCGGCG:GCGGCGGCGGCGGCGGCGGCG
                                        Gene:
                                        CXXC4 (Varview), CXXC4-AS1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,inframe_deletion,inframe_insertion,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GCGGCG=0./0 (ALFA)
                                        HGVS:
                                        NC_000004.12:g.104491567GCG[2], NC_000004.12:g.104491567GCG[3], NC_000004.12:g.104491567GCG[4], NC_000004.12:g.104491567GCG[6], NC_000004.12:g.104491567GCG[7], NC_000004.11:g.105412724GCG[2], NC_000004.11:g.105412724GCG[3], NC_000004.11:g.105412724GCG[4], NC_000004.11:g.105412724GCG[6], NC_000004.11:g.105412724GCG[7], NM_025212.4:c.222CGC[2], NM_025212.4:c.222CGC[3], NM_025212.4:c.222CGC[4], NM_025212.4:c.222CGC[6], NM_025212.4:c.222CGC[7], NM_025212.3:c.222CGC[2], NM_025212.3:c.222CGC[3], NM_025212.3:c.222CGC[4], NM_025212.3:c.222CGC[6], NM_025212.3:c.222CGC[7], NM_025212.2:c.222CGC[2], NM_025212.2:c.222CGC[3], NM_025212.2:c.222CGC[4], NM_025212.2:c.222CGC[6], NM_025212.2:c.222CGC[7], XM_011532284.3:c.222CGC[2], XM_011532284.3:c.222CGC[3], XM_011532284.3:c.222CGC[4], XM_011532284.3:c.222CGC[6], XM_011532284.3:c.222CGC[7], XM_011532284.2:c.222CGC[2], XM_011532284.2:c.222CGC[3], XM_011532284.2:c.222CGC[4], XM_011532284.2:c.222CGC[6], XM_011532284.2:c.222CGC[7], XM_011532284.1:c.222CGC[2], XM_011532284.1:c.222CGC[3], XM_011532284.1:c.222CGC[4], XM_011532284.1:c.222CGC[6], XM_011532284.1:c.222CGC[7], NP_079488.2:p.Ala80_Ala82del, NP_079488.2:p.Ala81_Ala82del, NP_079488.2:p.Ala82del, NP_079488.2:p.Ala82dup, NP_079488.2:p.Ala81_Ala82dup, XP_011530586.1:p.Ala80_Ala82del, XP_011530586.1:p.Ala81_Ala82del, XP_011530586.1:p.Ala82del, XP_011530586.1:p.Ala82dup, XP_011530586.1:p.Ala81_Ala82dup

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