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Links from Protein

Items: 1 to 20 of 281

1.

rs1489011394 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    17:42807786 (GRCh38)
    17:40959804 (GRCh37)
    Canonical SPDI:
    NC_000017.11:42807785:G:T
    Gene:
    CNTD1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1488745292 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      17:42804333 (GRCh38)
      17:40956351 (GRCh37)
      Canonical SPDI:
      NC_000017.11:42804332:C:G
      Gene:
      CNTD1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1485239179 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:42809420 (GRCh38)
        17:40961438 (GRCh37)
        Canonical SPDI:
        NC_000017.11:42809419:T:C
        Gene:
        CNTD1 (Varview)
        Functional Consequence:
        coding_sequence_variant,3_prime_UTR_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1482976807 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          17:42803645 (GRCh38)
          17:40955663 (GRCh37)
          Canonical SPDI:
          NC_000017.11:42803644:AT:
          Gene:
          CNTD1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,frameshift_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1479755671 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:42806689 (GRCh38)
            17:40958707 (GRCh37)
            Canonical SPDI:
            NC_000017.11:42806688:T:C
            Gene:
            CNTD1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1474385100 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              17:42807768 (GRCh38)
              17:40959786 (GRCh37)
              Canonical SPDI:
              NC_000017.11:42807767:G:C
              Gene:
              CNTD1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1470662387 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TGGCAGCC>- [Show Flanks]
                Chromosome:
                17:42809492 (GRCh38)
                17:40961510 (GRCh37)
                Canonical SPDI:
                NC_000017.11:42809489:CCTGGCAGCC:CC
                Gene:
                CNTD1 (Varview)
                Functional Consequence:
                frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                CC=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                9.

                rs1463080234 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:42809472 (GRCh38)
                  17:40961490 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:42809471:G:A
                  Gene:
                  CNTD1 (Varview)
                  Functional Consequence:
                  synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  10.

                  rs1462529640 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    17:42809513 (GRCh38)
                    17:40961531 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:42809512:C:G
                    Gene:
                    CNTD1 (Varview)
                    Functional Consequence:
                    missense_variant,3_prime_UTR_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    11.

                    rs1457604918 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      17:42804268 (GRCh38)
                      17:40956286 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:42804267:A:G
                      Gene:
                      CNTD1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      12.

                      rs1450585905 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        17:42804322 (GRCh38)
                        17:40956340 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:42804321:C:A
                        Gene:
                        CNTD1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        13.

                        rs1447069230 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          A>- [Show Flanks]
                          Chromosome:
                          17:42803683 (GRCh38)
                          17:40955701 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:42803682:AAA:AA
                          Gene:
                          CNTD1 (Varview)
                          Functional Consequence:
                          frameshift_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                          HGVS:
                          14.

                          rs1444131751 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:42809459 (GRCh38)
                            17:40961477 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:42809458:C:T
                            Gene:
                            CNTD1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            15.

                            rs1440954961 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:42799093 (GRCh38)
                              17:40951111 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:42799092:C:T
                              Gene:
                              COA3 (Varview), CNTD1 (Varview)
                              Functional Consequence:
                              missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              16.

                              rs1436765063 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                17:42799218 (GRCh38)
                                17:40951236 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:42799217:A:G,NC_000017.11:42799217:A:T
                                Gene:
                                COA3 (Varview), CNTD1 (Varview)
                                Functional Consequence:
                                missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                17.

                                rs1431279456 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  17:42803664 (GRCh38)
                                  17:40955682 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:42803663:G:C
                                  Gene:
                                  CNTD1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  18.

                                  rs1424912163 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:42806777 (GRCh38)
                                    17:40958795 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:42806776:G:A
                                    Gene:
                                    CNTD1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    19.

                                    rs1424571325 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:42799202 (GRCh38)
                                      17:40951220 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:42799201:G:A
                                      Gene:
                                      COA3 (Varview), CNTD1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.5/1 (SGDP_PRJ)
                                      HGVS:

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