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Items: 1 to 20 of 174

1.

rs1486621157 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:116557988 (GRCh38)
    6:116879151 (GRCh37)
    Canonical SPDI:
    NC_000006.12:116557987:G:A
    Gene:
    CALHM4 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000028/1 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000012/3 (GnomAD_exomes)
    A=0.000019/5 (TOPMED)
    HGVS:
    NC_000006.12:g.116557988G>A, NC_000006.11:g.116879151G>A, NM_153036.5:c.164G>A, NM_153036.4:c.164G>A, NM_153036.3:c.164G>A, XM_011535562.3:c.335G>A, XM_011535562.2:c.335G>A, XM_011535562.1:c.335G>A, XM_011535560.3:c.335G>A, XM_011535560.2:c.335G>A, XM_011535560.1:c.335G>A, NM_001256887.3:c.293G>A, NM_001256887.2:c.293G>A, NM_001256887.1:c.293G>A, XM_011535561.3:c.335G>A, XM_011535561.2:c.335G>A, XM_011535561.1:c.335G>A, NM_001256888.3:c.290G>A, NM_001256888.2:c.290G>A, NM_001256888.1:c.290G>A, XM_011535563.3:c.335G>A, XM_011535563.2:c.335G>A, XM_011535563.1:c.335G>A, NM_001256889.3:c.164G>A, NM_001256889.2:c.164G>A, NM_001256889.1:c.164G>A, NM_001366078.2:c.722G>A, NM_001366078.1:c.722G>A, XM_017010392.2:c.335G>A, XM_017010392.1:c.335G>A, XM_017010390.2:c.425G>A, XM_017010390.1:c.425G>A, XM_011535564.2:c.335G>A, XM_011535564.1:c.335G>A, XM_017010391.2:c.380G>A, XM_017010391.1:c.380G>A, NP_694581.1:p.Arg55Gln, XP_011533864.1:p.Arg112Gln, XP_011533862.1:p.Arg112Gln, NP_001243816.1:p.Arg98Gln, XP_011533863.1:p.Arg112Gln, NP_001243817.1:p.Arg97Gln, XP_011533865.1:p.Arg112Gln, NP_001243818.1:p.Arg55Gln, NP_001353007.1:p.Arg241Gln, XP_016865881.1:p.Arg112Gln, XP_016865879.1:p.Arg142Gln, XP_011533866.1:p.Arg112Gln, XP_016865880.1:p.Arg127Gln

    2.

    rs1482774082 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      6:116558078 (GRCh38)
      6:116879241 (GRCh37)
      Canonical SPDI:
      NC_000006.12:116558077:A:T
      Gene:
      CALHM4 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000006.12:g.116558078A>T, NC_000006.11:g.116879241A>T, NM_153036.5:c.254A>T, NM_153036.4:c.254A>T, NM_153036.3:c.254A>T, XM_011535562.3:c.425A>T, XM_011535562.2:c.425A>T, XM_011535562.1:c.425A>T, XM_011535560.3:c.425A>T, XM_011535560.2:c.425A>T, XM_011535560.1:c.425A>T, NM_001256887.3:c.383A>T, NM_001256887.2:c.383A>T, NM_001256887.1:c.383A>T, XM_011535561.3:c.425A>T, XM_011535561.2:c.425A>T, XM_011535561.1:c.425A>T, NM_001256888.3:c.380A>T, NM_001256888.2:c.380A>T, NM_001256888.1:c.380A>T, XM_011535563.3:c.425A>T, XM_011535563.2:c.425A>T, XM_011535563.1:c.425A>T, NM_001256889.3:c.254A>T, NM_001256889.2:c.254A>T, NM_001256889.1:c.254A>T, NM_001366078.2:c.812A>T, NM_001366078.1:c.812A>T, XM_017010392.2:c.425A>T, XM_017010392.1:c.425A>T, XM_017010390.2:c.515A>T, XM_017010390.1:c.515A>T, XM_011535564.2:c.425A>T, XM_011535564.1:c.425A>T, XM_017010391.2:c.470A>T, XM_017010391.1:c.470A>T, NP_694581.1:p.Asp85Val, XP_011533864.1:p.Asp142Val, XP_011533862.1:p.Asp142Val, NP_001243816.1:p.Asp128Val, XP_011533863.1:p.Asp142Val, NP_001243817.1:p.Asp127Val, XP_011533865.1:p.Asp142Val, NP_001243818.1:p.Asp85Val, NP_001353007.1:p.Asp271Val, XP_016865881.1:p.Asp142Val, XP_016865879.1:p.Asp172Val, XP_011533866.1:p.Asp142Val, XP_016865880.1:p.Asp157Val

      3.

      rs1482753020 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        6:116554260 (GRCh38)
        6:116875423 (GRCh37)
        Canonical SPDI:
        NC_000006.12:116554259:T:G
        Gene:
        CALHM4 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000006.12:g.116554260T>G, NC_000006.11:g.116875423T>G, XM_011535562.3:c.80T>G, XM_011535562.2:c.80T>G, XM_011535562.1:c.80T>G, XM_011535560.3:c.80T>G, XM_011535560.2:c.80T>G, XM_011535560.1:c.80T>G, NM_001256887.3:c.38T>G, NM_001256887.2:c.38T>G, NM_001256887.1:c.38T>G, XM_011535561.3:c.80T>G, XM_011535561.2:c.80T>G, XM_011535561.1:c.80T>G, XM_011535563.3:c.80T>G, XM_011535563.2:c.80T>G, XM_011535563.1:c.80T>G, NM_001366078.2:c.467T>G, NM_001366078.1:c.467T>G, XM_017010392.2:c.80T>G, XM_017010392.1:c.80T>G, XM_017010390.2:c.170T>G, XM_017010390.1:c.170T>G, XM_011535564.2:c.80T>G, XM_011535564.1:c.80T>G, XP_011533864.1:p.Ile27Ser, XP_011533862.1:p.Ile27Ser, NP_001243816.1:p.Ile13Ser, XP_011533863.1:p.Ile27Ser, XP_011533865.1:p.Ile27Ser, NP_001353007.1:p.Ile156Ser, XP_016865881.1:p.Ile27Ser, XP_016865879.1:p.Ile57Ser, XP_011533866.1:p.Ile27Ser

        4.

        rs1469106809 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          6:116554316 (GRCh38)
          6:116875479 (GRCh37)
          Canonical SPDI:
          NC_000006.12:116554315:G:A,NC_000006.12:116554315:G:C
          Gene:
          CALHM4 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          C=0.000035/1 (TOMMO)
          HGVS:
          NC_000006.12:g.116554316G>A, NC_000006.12:g.116554316G>C, NC_000006.11:g.116875479G>A, NC_000006.11:g.116875479G>C, XM_011535562.3:c.136G>A, XM_011535562.3:c.136G>C, XM_011535562.2:c.136G>A, XM_011535562.2:c.136G>C, XM_011535562.1:c.136G>A, XM_011535562.1:c.136G>C, XM_011535560.3:c.136G>A, XM_011535560.3:c.136G>C, XM_011535560.2:c.136G>A, XM_011535560.2:c.136G>C, XM_011535560.1:c.136G>A, XM_011535560.1:c.136G>C, NM_001256887.3:c.94G>A, NM_001256887.3:c.94G>C, NM_001256887.2:c.94G>A, NM_001256887.2:c.94G>C, NM_001256887.1:c.94G>A, NM_001256887.1:c.94G>C, XM_011535561.3:c.136G>A, XM_011535561.3:c.136G>C, XM_011535561.2:c.136G>A, XM_011535561.2:c.136G>C, XM_011535561.1:c.136G>A, XM_011535561.1:c.136G>C, NM_001256888.3:c.91G>A, NM_001256888.3:c.91G>C, NM_001256888.2:c.91G>A, NM_001256888.2:c.91G>C, NM_001256888.1:c.91G>A, NM_001256888.1:c.91G>C, XM_011535563.3:c.136G>A, XM_011535563.3:c.136G>C, XM_011535563.2:c.136G>A, XM_011535563.2:c.136G>C, XM_011535563.1:c.136G>A, XM_011535563.1:c.136G>C, NM_001366078.2:c.523G>A, NM_001366078.2:c.523G>C, NM_001366078.1:c.523G>A, NM_001366078.1:c.523G>C, XM_017010392.2:c.136G>A, XM_017010392.2:c.136G>C, XM_017010392.1:c.136G>A, XM_017010392.1:c.136G>C, XM_017010390.2:c.226G>A, XM_017010390.2:c.226G>C, XM_017010390.1:c.226G>A, XM_017010390.1:c.226G>C, XM_011535564.2:c.136G>A, XM_011535564.2:c.136G>C, XM_011535564.1:c.136G>A, XM_011535564.1:c.136G>C, XM_017010391.2:c.181G>A, XM_017010391.2:c.181G>C, XM_017010391.1:c.181G>A, XM_017010391.1:c.181G>C, XP_011533864.1:p.Asp46Asn, XP_011533864.1:p.Asp46His, XP_011533862.1:p.Asp46Asn, XP_011533862.1:p.Asp46His, NP_001243816.1:p.Asp32Asn, NP_001243816.1:p.Asp32His, XP_011533863.1:p.Asp46Asn, XP_011533863.1:p.Asp46His, NP_001243817.1:p.Asp31Asn, NP_001243817.1:p.Asp31His, XP_011533865.1:p.Asp46Asn, XP_011533865.1:p.Asp46His, NP_001353007.1:p.Asp175Asn, NP_001353007.1:p.Asp175His, XP_016865881.1:p.Asp46Asn, XP_016865881.1:p.Asp46His, XP_016865879.1:p.Asp76Asn, XP_016865879.1:p.Asp76His, XP_011533866.1:p.Asp46Asn, XP_011533866.1:p.Asp46His, XP_016865880.1:p.Asp61Asn, XP_016865880.1:p.Asp61His

          5.

          rs1462994853 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            6:116543818 (GRCh38)
            6:116864981 (GRCh37)
            Canonical SPDI:
            NC_000006.12:116543817:C:A
            Gene:
            CALHM4 (Varview), TRAPPC3L (Varview)
            Functional Consequence:
            missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            A=0.000021/3 (GnomAD)
            HGVS:
            NC_000006.12:g.116543818C>A, NC_000006.11:g.116864981C>A, NM_153036.5:c.-55C>A, NM_153036.4:c.-55C>A, NM_153036.3:c.-55C>A, XM_011535562.3:c.5C>A, XM_011535562.2:c.5C>A, XM_011535562.1:c.5C>A, XM_011535560.3:c.5C>A, XM_011535560.2:c.5C>A, XM_011535560.1:c.5C>A, NM_001256887.3:c.-87C>A, NM_001256887.2:c.-87C>A, NM_001256887.1:c.-87C>A, XM_011535561.3:c.5C>A, XM_011535561.2:c.5C>A, XM_011535561.1:c.5C>A, NM_001256888.3:c.5C>A, NM_001256888.2:c.5C>A, NM_001256888.1:c.5C>A, XM_011535563.3:c.5C>A, XM_011535563.2:c.5C>A, XM_011535563.1:c.5C>A, NM_001256889.3:c.-55C>A, NM_001256889.2:c.-55C>A, NM_001256889.1:c.-55C>A, XM_017010392.2:c.5C>A, XM_017010392.1:c.5C>A, XM_017010390.2:c.95C>A, XM_017010390.1:c.95C>A, XM_011535564.2:c.5C>A, XM_011535564.1:c.5C>A, XM_017010391.2:c.95C>A, XM_017010391.1:c.95C>A, XP_011533864.1:p.Ala2Asp, XP_011533862.1:p.Ala2Asp, XP_011533863.1:p.Ala2Asp, NP_001243817.1:p.Ala2Asp, XP_011533865.1:p.Ala2Asp, XP_016865881.1:p.Ala2Asp, XP_016865879.1:p.Ala32Asp, XP_011533866.1:p.Ala2Asp, XP_016865880.1:p.Ala32Asp

            6.

            rs1462607305 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              6:116557826 (GRCh38)
              6:116878989 (GRCh37)
              Canonical SPDI:
              NC_000006.12:116557825:T:G
              Gene:
              CALHM4 (Varview)
              Functional Consequence:
              initiator_codon_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.116557826T>G, NC_000006.11:g.116878989T>G, NM_153036.5:c.2T>G, NM_153036.4:c.2T>G, NM_153036.3:c.2T>G, XM_011535562.3:c.173T>G, XM_011535562.2:c.173T>G, XM_011535562.1:c.173T>G, XM_011535560.3:c.173T>G, XM_011535560.2:c.173T>G, XM_011535560.1:c.173T>G, NM_001256887.3:c.131T>G, NM_001256887.2:c.131T>G, NM_001256887.1:c.131T>G, XM_011535561.3:c.173T>G, XM_011535561.2:c.173T>G, XM_011535561.1:c.173T>G, NM_001256888.3:c.128T>G, NM_001256888.2:c.128T>G, NM_001256888.1:c.128T>G, XM_011535563.3:c.173T>G, XM_011535563.2:c.173T>G, XM_011535563.1:c.173T>G, NM_001256889.3:c.2T>G, NM_001256889.2:c.2T>G, NM_001256889.1:c.2T>G, NM_001366078.2:c.560T>G, NM_001366078.1:c.560T>G, XM_017010392.2:c.173T>G, XM_017010392.1:c.173T>G, XM_017010390.2:c.263T>G, XM_017010390.1:c.263T>G, XM_011535564.2:c.173T>G, XM_011535564.1:c.173T>G, XM_017010391.2:c.218T>G, XM_017010391.1:c.218T>G, NP_694581.1:p.Met1Arg, XP_011533864.1:p.Met58Arg, XP_011533862.1:p.Met58Arg, NP_001243816.1:p.Met44Arg, XP_011533863.1:p.Met58Arg, NP_001243817.1:p.Met43Arg, XP_011533865.1:p.Met58Arg, NP_001243818.1:p.Met1Arg, NP_001353007.1:p.Met187Arg, XP_016865881.1:p.Met58Arg, XP_016865879.1:p.Met88Arg, XP_011533866.1:p.Met58Arg, XP_016865880.1:p.Met73Arg

              7.

              rs1457226081 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                6:116558045 (GRCh38)
                6:116879208 (GRCh37)
                Canonical SPDI:
                NC_000006.12:116558044:A:T
                Gene:
                CALHM4 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000084/1 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000006.12:g.116558045A>T, NC_000006.11:g.116879208A>T, NM_153036.5:c.221A>T, NM_153036.4:c.221A>T, NM_153036.3:c.221A>T, XM_011535562.3:c.392A>T, XM_011535562.2:c.392A>T, XM_011535562.1:c.392A>T, XM_011535560.3:c.392A>T, XM_011535560.2:c.392A>T, XM_011535560.1:c.392A>T, NM_001256887.3:c.350A>T, NM_001256887.2:c.350A>T, NM_001256887.1:c.350A>T, XM_011535561.3:c.392A>T, XM_011535561.2:c.392A>T, XM_011535561.1:c.392A>T, NM_001256888.3:c.347A>T, NM_001256888.2:c.347A>T, NM_001256888.1:c.347A>T, XM_011535563.3:c.392A>T, XM_011535563.2:c.392A>T, XM_011535563.1:c.392A>T, NM_001256889.3:c.221A>T, NM_001256889.2:c.221A>T, NM_001256889.1:c.221A>T, NM_001366078.2:c.779A>T, NM_001366078.1:c.779A>T, XM_017010392.2:c.392A>T, XM_017010392.1:c.392A>T, XM_017010390.2:c.482A>T, XM_017010390.1:c.482A>T, XM_011535564.2:c.392A>T, XM_011535564.1:c.392A>T, XM_017010391.2:c.437A>T, XM_017010391.1:c.437A>T, NP_694581.1:p.Asp74Val, XP_011533864.1:p.Asp131Val, XP_011533862.1:p.Asp131Val, NP_001243816.1:p.Asp117Val, XP_011533863.1:p.Asp131Val, NP_001243817.1:p.Asp116Val, XP_011533865.1:p.Asp131Val, NP_001243818.1:p.Asp74Val, NP_001353007.1:p.Asp260Val, XP_016865881.1:p.Asp131Val, XP_016865879.1:p.Asp161Val, XP_011533866.1:p.Asp131Val, XP_016865880.1:p.Asp146Val

                8.

                rs1454417573 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:116558120 (GRCh38)
                  6:116879283 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:116558119:A:G
                  Gene:
                  CALHM4 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.116558120A>G, NC_000006.11:g.116879283A>G, NM_153036.5:c.296A>G, NM_153036.4:c.296A>G, NM_153036.3:c.296A>G, XM_011535562.3:c.467A>G, XM_011535562.2:c.467A>G, XM_011535562.1:c.467A>G, XM_011535560.3:c.467A>G, XM_011535560.2:c.467A>G, XM_011535560.1:c.467A>G, NM_001256887.3:c.425A>G, NM_001256887.2:c.425A>G, NM_001256887.1:c.425A>G, XM_011535561.3:c.467A>G, XM_011535561.2:c.467A>G, XM_011535561.1:c.467A>G, NM_001256888.3:c.422A>G, NM_001256888.2:c.422A>G, NM_001256888.1:c.422A>G, XM_011535563.3:c.467A>G, XM_011535563.2:c.467A>G, XM_011535563.1:c.467A>G, NM_001256889.3:c.296A>G, NM_001256889.2:c.296A>G, NM_001256889.1:c.296A>G, NM_001366078.2:c.854A>G, NM_001366078.1:c.854A>G, XM_017010392.2:c.467A>G, XM_017010392.1:c.467A>G, XM_017010390.2:c.557A>G, XM_017010390.1:c.557A>G, XM_011535564.2:c.467A>G, XM_011535564.1:c.467A>G, XM_017010391.2:c.512A>G, XM_017010391.1:c.512A>G, NP_694581.1:p.Asp99Gly, XP_011533864.1:p.Asp156Gly, XP_011533862.1:p.Asp156Gly, NP_001243816.1:p.Asp142Gly, XP_011533863.1:p.Asp156Gly, NP_001243817.1:p.Asp141Gly, XP_011533865.1:p.Asp156Gly, NP_001243818.1:p.Asp99Gly, NP_001353007.1:p.Asp285Gly, XP_016865881.1:p.Asp156Gly, XP_016865879.1:p.Asp186Gly, XP_011533866.1:p.Asp156Gly, XP_016865880.1:p.Asp171Gly

                  9.

                  rs1451838311 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    6:116558204 (GRCh38)
                    6:116879367 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:116558203:A:G
                    Gene:
                    CALHM4 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    HGVS:
                    NC_000006.12:g.116558204A>G, NC_000006.11:g.116879367A>G, NM_153036.5:c.380A>G, NM_153036.4:c.380A>G, NM_153036.3:c.380A>G, XM_011535562.3:c.551A>G, XM_011535562.2:c.551A>G, XM_011535562.1:c.551A>G, XM_011535560.3:c.551A>G, XM_011535560.2:c.551A>G, XM_011535560.1:c.551A>G, NM_001256887.3:c.509A>G, NM_001256887.2:c.509A>G, NM_001256887.1:c.509A>G, XM_011535561.3:c.551A>G, XM_011535561.2:c.551A>G, XM_011535561.1:c.551A>G, NM_001256888.3:c.506A>G, NM_001256888.2:c.506A>G, NM_001256888.1:c.506A>G, XM_011535563.3:c.551A>G, XM_011535563.2:c.551A>G, XM_011535563.1:c.551A>G, NM_001256889.3:c.380A>G, NM_001256889.2:c.380A>G, NM_001256889.1:c.380A>G, NM_001366078.2:c.938A>G, NM_001366078.1:c.938A>G, XM_017010392.2:c.551A>G, XM_017010392.1:c.551A>G, XM_017010390.2:c.641A>G, XM_017010390.1:c.641A>G, XM_011535564.2:c.551A>G, XM_011535564.1:c.551A>G, XM_017010391.2:c.596A>G, XM_017010391.1:c.596A>G, NP_694581.1:p.Lys127Arg, XP_011533864.1:p.Lys184Arg, XP_011533862.1:p.Lys184Arg, NP_001243816.1:p.Lys170Arg, XP_011533863.1:p.Lys184Arg, NP_001243817.1:p.Lys169Arg, XP_011533865.1:p.Lys184Arg, NP_001243818.1:p.Lys127Arg, NP_001353007.1:p.Lys313Arg, XP_016865881.1:p.Lys184Arg, XP_016865879.1:p.Lys214Arg, XP_011533866.1:p.Lys184Arg, XP_016865880.1:p.Lys199Arg

                    10.

                    rs1447405299 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      6:116557900 (GRCh38)
                      6:116879063 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:116557899:CCCC:CCC
                      Gene:
                      CALHM4 (Varview)
                      Functional Consequence:
                      frameshift_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      -=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.116557903del, NC_000006.11:g.116879066del, NM_153036.5:c.79del, NM_153036.4:c.79del, NM_153036.3:c.79del, XM_011535562.3:c.250del, XM_011535562.2:c.250del, XM_011535562.1:c.250del, XM_011535560.3:c.250del, XM_011535560.2:c.250del, XM_011535560.1:c.250del, NM_001256887.3:c.208del, NM_001256887.2:c.208del, NM_001256887.1:c.208del, XM_011535561.3:c.250del, XM_011535561.2:c.250del, XM_011535561.1:c.250del, NM_001256888.3:c.205del, NM_001256888.2:c.205del, NM_001256888.1:c.205del, XM_011535563.3:c.250del, XM_011535563.2:c.250del, XM_011535563.1:c.250del, NM_001256889.3:c.79del, NM_001256889.2:c.79del, NM_001256889.1:c.79del, NM_001366078.2:c.637del, NM_001366078.1:c.637del, XM_017010392.2:c.250del, XM_017010392.1:c.250del, XM_017010390.2:c.340del, XM_017010390.1:c.340del, XM_011535564.2:c.250del, XM_011535564.1:c.250del, XM_017010391.2:c.295del, XM_017010391.1:c.295del, NP_694581.1:p.Leu27fs, XP_011533864.1:p.Leu84fs, XP_011533862.1:p.Leu84fs, NP_001243816.1:p.Leu70fs, XP_011533863.1:p.Leu84fs, NP_001243817.1:p.Leu69fs, XP_011533865.1:p.Leu84fs, NP_001243818.1:p.Leu27fs, NP_001353007.1:p.Leu213fs, XP_016865881.1:p.Leu84fs, XP_016865879.1:p.Leu114fs, XP_011533866.1:p.Leu84fs, XP_016865880.1:p.Leu99fs

                      11.

                      rs1442328195 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        6:116554292 (GRCh38)
                        6:116875455 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:116554291:C:T
                        Gene:
                        CALHM4 (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD_exomes)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000006.12:g.116554292C>T, NC_000006.11:g.116875455C>T, XM_011535562.3:c.112C>T, XM_011535562.2:c.112C>T, XM_011535562.1:c.112C>T, XM_011535560.3:c.112C>T, XM_011535560.2:c.112C>T, XM_011535560.1:c.112C>T, NM_001256887.3:c.70C>T, NM_001256887.2:c.70C>T, NM_001256887.1:c.70C>T, XM_011535561.3:c.112C>T, XM_011535561.2:c.112C>T, XM_011535561.1:c.112C>T, NM_001256888.3:c.67C>T, NM_001256888.2:c.67C>T, NM_001256888.1:c.67C>T, XM_011535563.3:c.112C>T, XM_011535563.2:c.112C>T, XM_011535563.1:c.112C>T, NM_001366078.2:c.499C>T, NM_001366078.1:c.499C>T, XM_017010392.2:c.112C>T, XM_017010392.1:c.112C>T, XM_017010390.2:c.202C>T, XM_017010390.1:c.202C>T, XM_011535564.2:c.112C>T, XM_011535564.1:c.112C>T, XM_017010391.2:c.157C>T, XM_017010391.1:c.157C>T, XP_011533864.1:p.Pro38Ser, XP_011533862.1:p.Pro38Ser, NP_001243816.1:p.Pro24Ser, XP_011533863.1:p.Pro38Ser, NP_001243817.1:p.Pro23Ser, XP_011533865.1:p.Pro38Ser, NP_001353007.1:p.Pro167Ser, XP_016865881.1:p.Pro38Ser, XP_016865879.1:p.Pro68Ser, XP_011533866.1:p.Pro38Ser, XP_016865880.1:p.Pro53Ser

                        12.

                        rs1440017584 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          6:116554334 (GRCh38)
                          6:116875497 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:116554333:C:T
                          Gene:
                          CALHM4 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant
                          HGVS:
                          NC_000006.12:g.116554334C>T, NC_000006.11:g.116875497C>T, XM_011535562.3:c.154C>T, XM_011535562.2:c.154C>T, XM_011535562.1:c.154C>T, XM_011535560.3:c.154C>T, XM_011535560.2:c.154C>T, XM_011535560.1:c.154C>T, NM_001256887.3:c.112C>T, NM_001256887.2:c.112C>T, NM_001256887.1:c.112C>T, XM_011535561.3:c.154C>T, XM_011535561.2:c.154C>T, XM_011535561.1:c.154C>T, NM_001256888.3:c.109C>T, NM_001256888.2:c.109C>T, NM_001256888.1:c.109C>T, XM_011535563.3:c.154C>T, XM_011535563.2:c.154C>T, XM_011535563.1:c.154C>T, NM_001366078.2:c.541C>T, NM_001366078.1:c.541C>T, XM_017010392.2:c.154C>T, XM_017010392.1:c.154C>T, XM_017010390.2:c.244C>T, XM_017010390.1:c.244C>T, XM_011535564.2:c.154C>T, XM_011535564.1:c.154C>T, XM_017010391.2:c.199C>T, XM_017010391.1:c.199C>T, XP_011533864.1:p.His52Tyr, XP_011533862.1:p.His52Tyr, NP_001243816.1:p.His38Tyr, XP_011533863.1:p.His52Tyr, NP_001243817.1:p.His37Tyr, XP_011533865.1:p.His52Tyr, NP_001353007.1:p.His181Tyr, XP_016865881.1:p.His52Tyr, XP_016865879.1:p.His82Tyr, XP_011533866.1:p.His52Tyr, XP_016865880.1:p.His67Tyr

                          13.

                          rs1437024602 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            6:116558063 (GRCh38)
                            6:116879226 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:116558062:T:A
                            Gene:
                            CALHM4 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000047/1 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.116558063T>A, NC_000006.11:g.116879226T>A, NM_153036.5:c.239T>A, NM_153036.4:c.239T>A, NM_153036.3:c.239T>A, XM_011535562.3:c.410T>A, XM_011535562.2:c.410T>A, XM_011535562.1:c.410T>A, XM_011535560.3:c.410T>A, XM_011535560.2:c.410T>A, XM_011535560.1:c.410T>A, NM_001256887.3:c.368T>A, NM_001256887.2:c.368T>A, NM_001256887.1:c.368T>A, XM_011535561.3:c.410T>A, XM_011535561.2:c.410T>A, XM_011535561.1:c.410T>A, NM_001256888.3:c.365T>A, NM_001256888.2:c.365T>A, NM_001256888.1:c.365T>A, XM_011535563.3:c.410T>A, XM_011535563.2:c.410T>A, XM_011535563.1:c.410T>A, NM_001256889.3:c.239T>A, NM_001256889.2:c.239T>A, NM_001256889.1:c.239T>A, NM_001366078.2:c.797T>A, NM_001366078.1:c.797T>A, XM_017010392.2:c.410T>A, XM_017010392.1:c.410T>A, XM_017010390.2:c.500T>A, XM_017010390.1:c.500T>A, XM_011535564.2:c.410T>A, XM_011535564.1:c.410T>A, XM_017010391.2:c.455T>A, XM_017010391.1:c.455T>A, NP_694581.1:p.Ile80Asn, XP_011533864.1:p.Ile137Asn, XP_011533862.1:p.Ile137Asn, NP_001243816.1:p.Ile123Asn, XP_011533863.1:p.Ile137Asn, NP_001243817.1:p.Ile122Asn, XP_011533865.1:p.Ile137Asn, NP_001243818.1:p.Ile80Asn, NP_001353007.1:p.Ile266Asn, XP_016865881.1:p.Ile137Asn, XP_016865879.1:p.Ile167Asn, XP_011533866.1:p.Ile137Asn, XP_016865880.1:p.Ile152Asn

                            14.

                            rs1432294818 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              6:116558097 (GRCh38)
                              6:116879260 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:116558096:A:G
                              Gene:
                              CALHM4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000006.12:g.116558097A>G, NC_000006.11:g.116879260A>G, NM_153036.5:c.273A>G, NM_153036.4:c.273A>G, NM_153036.3:c.273A>G, XM_011535562.3:c.444A>G, XM_011535562.2:c.444A>G, XM_011535562.1:c.444A>G, XM_011535560.3:c.444A>G, XM_011535560.2:c.444A>G, XM_011535560.1:c.444A>G, NM_001256887.3:c.402A>G, NM_001256887.2:c.402A>G, NM_001256887.1:c.402A>G, XM_011535561.3:c.444A>G, XM_011535561.2:c.444A>G, XM_011535561.1:c.444A>G, NM_001256888.3:c.399A>G, NM_001256888.2:c.399A>G, NM_001256888.1:c.399A>G, XM_011535563.3:c.444A>G, XM_011535563.2:c.444A>G, XM_011535563.1:c.444A>G, NM_001256889.3:c.273A>G, NM_001256889.2:c.273A>G, NM_001256889.1:c.273A>G, NM_001366078.2:c.831A>G, NM_001366078.1:c.831A>G, XM_017010392.2:c.444A>G, XM_017010392.1:c.444A>G, XM_017010390.2:c.534A>G, XM_017010390.1:c.534A>G, XM_011535564.2:c.444A>G, XM_011535564.1:c.444A>G, XM_017010391.2:c.489A>G, XM_017010391.1:c.489A>G

                              15.

                              rs1427041684 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                6:116558172 (GRCh38)
                                6:116879335 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:116558171:T:C
                                Gene:
                                CALHM4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000006.12:g.116558172T>C, NC_000006.11:g.116879335T>C, NM_153036.5:c.348T>C, NM_153036.4:c.348T>C, NM_153036.3:c.348T>C, XM_011535562.3:c.519T>C, XM_011535562.2:c.519T>C, XM_011535562.1:c.519T>C, XM_011535560.3:c.519T>C, XM_011535560.2:c.519T>C, XM_011535560.1:c.519T>C, NM_001256887.3:c.477T>C, NM_001256887.2:c.477T>C, NM_001256887.1:c.477T>C, XM_011535561.3:c.519T>C, XM_011535561.2:c.519T>C, XM_011535561.1:c.519T>C, NM_001256888.3:c.474T>C, NM_001256888.2:c.474T>C, NM_001256888.1:c.474T>C, XM_011535563.3:c.519T>C, XM_011535563.2:c.519T>C, XM_011535563.1:c.519T>C, NM_001256889.3:c.348T>C, NM_001256889.2:c.348T>C, NM_001256889.1:c.348T>C, NM_001366078.2:c.906T>C, NM_001366078.1:c.906T>C, XM_017010392.2:c.519T>C, XM_017010392.1:c.519T>C, XM_017010390.2:c.609T>C, XM_017010390.1:c.609T>C, XM_011535564.2:c.519T>C, XM_011535564.1:c.519T>C, XM_017010391.2:c.564T>C, XM_017010391.1:c.564T>C

                                16.

                                rs1421421676 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  6:116557902 (GRCh38)
                                  6:116879065 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:116557901:C:T
                                  Gene:
                                  CALHM4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.116557902C>T, NC_000006.11:g.116879065C>T, NM_153036.5:c.78C>T, NM_153036.4:c.78C>T, NM_153036.3:c.78C>T, XM_011535562.3:c.249C>T, XM_011535562.2:c.249C>T, XM_011535562.1:c.249C>T, XM_011535560.3:c.249C>T, XM_011535560.2:c.249C>T, XM_011535560.1:c.249C>T, NM_001256887.3:c.207C>T, NM_001256887.2:c.207C>T, NM_001256887.1:c.207C>T, XM_011535561.3:c.249C>T, XM_011535561.2:c.249C>T, XM_011535561.1:c.249C>T, NM_001256888.3:c.204C>T, NM_001256888.2:c.204C>T, NM_001256888.1:c.204C>T, XM_011535563.3:c.249C>T, XM_011535563.2:c.249C>T, XM_011535563.1:c.249C>T, NM_001256889.3:c.78C>T, NM_001256889.2:c.78C>T, NM_001256889.1:c.78C>T, NM_001366078.2:c.636C>T, NM_001366078.1:c.636C>T, XM_017010392.2:c.249C>T, XM_017010392.1:c.249C>T, XM_017010390.2:c.339C>T, XM_017010390.1:c.339C>T, XM_011535564.2:c.249C>T, XM_011535564.1:c.249C>T, XM_017010391.2:c.294C>T, XM_017010391.1:c.294C>T

                                  17.

                                  rs1418057746 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    6:116554250 (GRCh38)
                                    6:116875413 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:116554249:C:T
                                    Gene:
                                    CALHM4 (Varview)
                                    Functional Consequence:
                                    stop_gained,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD_exomes)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.116554250C>T, NC_000006.11:g.116875413C>T, XM_011535562.3:c.70C>T, XM_011535562.2:c.70C>T, XM_011535562.1:c.70C>T, XM_011535560.3:c.70C>T, XM_011535560.2:c.70C>T, XM_011535560.1:c.70C>T, NM_001256887.3:c.28C>T, NM_001256887.2:c.28C>T, NM_001256887.1:c.28C>T, XM_011535561.3:c.70C>T, XM_011535561.2:c.70C>T, XM_011535561.1:c.70C>T, XM_011535563.3:c.70C>T, XM_011535563.2:c.70C>T, XM_011535563.1:c.70C>T, NM_001366078.2:c.457C>T, NM_001366078.1:c.457C>T, XM_017010392.2:c.70C>T, XM_017010392.1:c.70C>T, XM_017010390.2:c.160C>T, XM_017010390.1:c.160C>T, XM_011535564.2:c.70C>T, XM_011535564.1:c.70C>T, XP_011533864.1:p.Arg24Ter, XP_011533862.1:p.Arg24Ter, NP_001243816.1:p.Arg10Ter, XP_011533863.1:p.Arg24Ter, XP_011533865.1:p.Arg24Ter, NP_001353007.1:p.Arg153Ter, XP_016865881.1:p.Arg24Ter, XP_016865879.1:p.Arg54Ter, XP_011533866.1:p.Arg24Ter

                                    18.

                                    rs1413932713 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:116554275 (GRCh38)
                                      6:116875438 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:116554274:C:T
                                      Gene:
                                      CALHM4 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000006.12:g.116554275C>T, NC_000006.11:g.116875438C>T, XM_011535562.3:c.95C>T, XM_011535562.2:c.95C>T, XM_011535562.1:c.95C>T, XM_011535560.3:c.95C>T, XM_011535560.2:c.95C>T, XM_011535560.1:c.95C>T, NM_001256887.3:c.53C>T, NM_001256887.2:c.53C>T, NM_001256887.1:c.53C>T, XM_011535561.3:c.95C>T, XM_011535561.2:c.95C>T, XM_011535561.1:c.95C>T, XM_011535563.3:c.95C>T, XM_011535563.2:c.95C>T, XM_011535563.1:c.95C>T, NM_001366078.2:c.482C>T, NM_001366078.1:c.482C>T, XM_017010392.2:c.95C>T, XM_017010392.1:c.95C>T, XM_017010390.2:c.185C>T, XM_017010390.1:c.185C>T, XM_011535564.2:c.95C>T, XM_011535564.1:c.95C>T, XP_011533864.1:p.Pro32Leu, XP_011533862.1:p.Pro32Leu, NP_001243816.1:p.Pro18Leu, XP_011533863.1:p.Pro32Leu, XP_011533865.1:p.Pro32Leu, NP_001353007.1:p.Pro161Leu, XP_016865881.1:p.Pro32Leu, XP_016865879.1:p.Pro62Leu, XP_011533866.1:p.Pro32Leu

                                      19.

                                      rs1401628386 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:116558145 (GRCh38)
                                        6:116879308 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:116558144:C:T
                                        Gene:
                                        CALHM4 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.00003/1 (ALFA)
                                        T=0.000008/2 (GnomAD_exomes)
                                        T=0.000071/1 (TOMMO)
                                        HGVS:
                                        NC_000006.12:g.116558145C>T, NC_000006.11:g.116879308C>T, NM_153036.5:c.321C>T, NM_153036.4:c.321C>T, NM_153036.3:c.321C>T, XM_011535562.3:c.492C>T, XM_011535562.2:c.492C>T, XM_011535562.1:c.492C>T, XM_011535560.3:c.492C>T, XM_011535560.2:c.492C>T, XM_011535560.1:c.492C>T, NM_001256887.3:c.450C>T, NM_001256887.2:c.450C>T, NM_001256887.1:c.450C>T, XM_011535561.3:c.492C>T, XM_011535561.2:c.492C>T, XM_011535561.1:c.492C>T, NM_001256888.3:c.447C>T, NM_001256888.2:c.447C>T, NM_001256888.1:c.447C>T, XM_011535563.3:c.492C>T, XM_011535563.2:c.492C>T, XM_011535563.1:c.492C>T, NM_001256889.3:c.321C>T, NM_001256889.2:c.321C>T, NM_001256889.1:c.321C>T, NM_001366078.2:c.879C>T, NM_001366078.1:c.879C>T, XM_017010392.2:c.492C>T, XM_017010392.1:c.492C>T, XM_017010390.2:c.582C>T, XM_017010390.1:c.582C>T, XM_011535564.2:c.492C>T, XM_011535564.1:c.492C>T, XM_017010391.2:c.537C>T, XM_017010391.1:c.537C>T

                                        20.

                                        rs1401012141 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:116557949 (GRCh38)
                                          6:116879112 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:116557948:A:G
                                          Gene:
                                          CALHM4 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.116557949A>G, NC_000006.11:g.116879112A>G, NM_153036.5:c.125A>G, NM_153036.4:c.125A>G, NM_153036.3:c.125A>G, XM_011535562.3:c.296A>G, XM_011535562.2:c.296A>G, XM_011535562.1:c.296A>G, XM_011535560.3:c.296A>G, XM_011535560.2:c.296A>G, XM_011535560.1:c.296A>G, NM_001256887.3:c.254A>G, NM_001256887.2:c.254A>G, NM_001256887.1:c.254A>G, XM_011535561.3:c.296A>G, XM_011535561.2:c.296A>G, XM_011535561.1:c.296A>G, NM_001256888.3:c.251A>G, NM_001256888.2:c.251A>G, NM_001256888.1:c.251A>G, XM_011535563.3:c.296A>G, XM_011535563.2:c.296A>G, XM_011535563.1:c.296A>G, NM_001256889.3:c.125A>G, NM_001256889.2:c.125A>G, NM_001256889.1:c.125A>G, NM_001366078.2:c.683A>G, NM_001366078.1:c.683A>G, XM_017010392.2:c.296A>G, XM_017010392.1:c.296A>G, XM_017010390.2:c.386A>G, XM_017010390.1:c.386A>G, XM_011535564.2:c.296A>G, XM_011535564.1:c.296A>G, XM_017010391.2:c.341A>G, XM_017010391.1:c.341A>G, NP_694581.1:p.Glu42Gly, XP_011533864.1:p.Glu99Gly, XP_011533862.1:p.Glu99Gly, NP_001243816.1:p.Glu85Gly, XP_011533863.1:p.Glu99Gly, NP_001243817.1:p.Glu84Gly, XP_011533865.1:p.Glu99Gly, NP_001243818.1:p.Glu42Gly, NP_001353007.1:p.Glu228Gly, XP_016865881.1:p.Glu99Gly, XP_016865879.1:p.Glu129Gly, XP_011533866.1:p.Glu99Gly, XP_016865880.1:p.Glu114Gly

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