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Items: 1 to 20 of 1000

1.

rs1490857925 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    11:118472048 (GRCh38)
    11:118342763 (GRCh37)
    Canonical SPDI:
    NC_000011.10:118472047:G:A,NC_000011.10:118472047:G:T
    Gene:
    KMT2A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000011.10:g.118472048G>A, NC_000011.10:g.118472048G>T, NC_000011.9:g.118342763G>A, NC_000011.9:g.118342763G>T, NG_027813.1:g.40559G>A, NG_027813.1:g.40559G>T, NM_005933.4:c.889G>A, NM_005933.4:c.889G>T, NM_005933.3:c.889G>A, NM_005933.3:c.889G>T, NM_001197104.2:c.889G>A, NM_001197104.2:c.889G>T, NM_001197104.1:c.889G>A, NM_001197104.1:c.889G>T, NW_003871072.2:g.97486G>A, NW_003871072.2:g.97486G>T, XM_011542829.3:c.988G>A, XM_011542829.3:c.988G>T, XM_011542829.2:c.988G>A, XM_011542829.2:c.988G>T, XM_011542829.1:c.988G>A, XM_011542829.1:c.988G>T, XM_011542830.3:c.988G>A, XM_011542830.3:c.988G>T, XM_011542830.2:c.988G>A, XM_011542830.2:c.988G>T, XM_011542830.1:c.988G>A, XM_011542830.1:c.988G>T, XM_011542831.3:c.988G>A, XM_011542831.3:c.988G>T, XM_011542831.2:c.988G>A, XM_011542831.2:c.988G>T, XM_011542831.1:c.988G>A, XM_011542831.1:c.988G>T, XM_047426963.1:c.988G>A, XM_047426963.1:c.988G>T, NP_005924.2:p.Val297Ile, NP_005924.2:p.Val297Leu, NP_001184033.1:p.Val297Ile, NP_001184033.1:p.Val297Leu, XP_011541131.1:p.Val330Ile, XP_011541131.1:p.Val330Leu, XP_011541132.1:p.Val330Ile, XP_011541132.1:p.Val330Leu, XP_011541133.1:p.Val330Ile, XP_011541133.1:p.Val330Leu, XP_047282919.1:p.Val330Ile, XP_047282919.1:p.Val330Leu
    2.

    rs1487602771 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      11:118472319 (GRCh38)
      11:118343034 (GRCh37)
      Canonical SPDI:
      NC_000011.10:118472318:T:A,NC_000011.10:118472318:T:C
      Gene:
      KMT2A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.00006/2 (ALFA)
      HGVS:
      NC_000011.10:g.118472319T>A, NC_000011.10:g.118472319T>C, NC_000011.9:g.118343034T>A, NC_000011.9:g.118343034T>C, NG_027813.1:g.40830T>A, NG_027813.1:g.40830T>C, NM_005933.4:c.1160T>A, NM_005933.4:c.1160T>C, NM_005933.3:c.1160T>A, NM_005933.3:c.1160T>C, NM_001197104.2:c.1160T>A, NM_001197104.2:c.1160T>C, NM_001197104.1:c.1160T>A, NM_001197104.1:c.1160T>C, NW_003871072.2:g.97757T>A, NW_003871072.2:g.97757T>C, XM_011542829.3:c.1259T>A, XM_011542829.3:c.1259T>C, XM_011542829.2:c.1259T>A, XM_011542829.2:c.1259T>C, XM_011542829.1:c.1259T>A, XM_011542829.1:c.1259T>C, XM_011542830.3:c.1259T>A, XM_011542830.3:c.1259T>C, XM_011542830.2:c.1259T>A, XM_011542830.2:c.1259T>C, XM_011542830.1:c.1259T>A, XM_011542830.1:c.1259T>C, XM_011542831.3:c.1259T>A, XM_011542831.3:c.1259T>C, XM_011542831.2:c.1259T>A, XM_011542831.2:c.1259T>C, XM_011542831.1:c.1259T>A, XM_011542831.1:c.1259T>C, XM_047426963.1:c.1259T>A, XM_047426963.1:c.1259T>C, NP_005924.2:p.Ile387Asn, NP_005924.2:p.Ile387Thr, NP_001184033.1:p.Ile387Asn, NP_001184033.1:p.Ile387Thr, XP_011541131.1:p.Ile420Asn, XP_011541131.1:p.Ile420Thr, XP_011541132.1:p.Ile420Asn, XP_011541132.1:p.Ile420Thr, XP_011541133.1:p.Ile420Asn, XP_011541133.1:p.Ile420Thr, XP_047282919.1:p.Ile420Asn, XP_047282919.1:p.Ile420Thr
      5.

      rs1485835645 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        11:118504981 (GRCh38)
        11:118375696 (GRCh37)
        Canonical SPDI:
        NC_000011.10:118504980:G:A,NC_000011.10:118504980:G:C
        Gene:
        KMT2A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000028/1 (ALFA)
        A=0.000008/2 (GnomAD_exomes)
        A=0.000019/5 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:
        NC_000011.10:g.118504981G>A, NC_000011.10:g.118504981G>C, NC_000011.9:g.118375696G>A, NC_000011.9:g.118375696G>C, NG_027813.1:g.73492G>A, NG_027813.1:g.73492G>C, NM_005933.4:c.9080G>A, NM_005933.4:c.9080G>C, NM_005933.3:c.9080G>A, NM_005933.3:c.9080G>C, NM_001197104.2:c.9089G>A, NM_001197104.2:c.9089G>C, NM_001197104.1:c.9089G>A, NM_001197104.1:c.9089G>C, NW_003871072.2:g.130419G>A, NW_003871072.2:g.130419G>C, XM_006718839.4:c.6572G>A, XM_006718839.4:c.6572G>C, XM_006718839.3:c.6572G>A, XM_006718839.3:c.6572G>C, XM_006718839.2:c.6572G>A, XM_006718839.2:c.6572G>C, XM_006718839.1:c.6065G>A, XM_006718839.1:c.6065G>C, XM_011542829.3:c.9188G>A, XM_011542829.3:c.9188G>C, XM_011542829.2:c.9188G>A, XM_011542829.2:c.9188G>C, XM_011542829.1:c.9188G>A, XM_011542829.1:c.9188G>C, XM_011542830.3:c.9185G>A, XM_011542830.3:c.9185G>C, XM_011542830.2:c.9185G>A, XM_011542830.2:c.9185G>C, XM_011542830.1:c.9185G>A, XM_011542830.1:c.9185G>C, XM_011542831.3:c.9179G>A, XM_011542831.3:c.9179G>C, XM_011542831.2:c.9179G>A, XM_011542831.2:c.9179G>C, XM_011542831.1:c.9179G>A, XM_011542831.1:c.9179G>C, XM_011542833.3:c.6671G>A, XM_011542833.3:c.6671G>C, XM_011542833.2:c.6671G>A, XM_011542833.2:c.6671G>C, XM_011542833.1:c.6671G>A, XM_011542833.1:c.6671G>C, XM_047426963.1:c.9176G>A, XM_047426963.1:c.9176G>C, XM_047426964.1:c.6563G>A, XM_047426964.1:c.6563G>C, NP_005924.2:p.Ser3027Asn, NP_005924.2:p.Ser3027Thr, NP_001184033.1:p.Ser3030Asn, NP_001184033.1:p.Ser3030Thr, XP_006718902.2:p.Ser2191Asn, XP_006718902.2:p.Ser2191Thr, XP_011541131.1:p.Ser3063Asn, XP_011541131.1:p.Ser3063Thr, XP_011541132.1:p.Ser3062Asn, XP_011541132.1:p.Ser3062Thr, XP_011541133.1:p.Ser3060Asn, XP_011541133.1:p.Ser3060Thr, XP_011541135.1:p.Ser2224Asn, XP_011541135.1:p.Ser2224Thr, XP_047282919.1:p.Ser3059Asn, XP_047282919.1:p.Ser3059Thr, XP_047282920.1:p.Ser2188Asn, XP_047282920.1:p.Ser2188Thr
        9.

        rs1483691286 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:118471876 (GRCh38)
          11:118342591 (GRCh37)
          Canonical SPDI:
          NC_000011.10:118471875:G:A
          Gene:
          KMT2A (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000011/3 (TOPMED)
          HGVS:
          10.

          rs1482293598 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            11:118436617 (GRCh38)
            11:118307332 (GRCh37)
            Canonical SPDI:
            NC_000011.10:118436616:C:G,NC_000011.10:118436616:C:T
            Gene:
            KMT2A (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Clinical significance:
            likely-benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000022/3 (GnomAD)
            T=0.000023/6 (TOPMED)
            HGVS:
            NC_000011.10:g.118436617C>G, NC_000011.10:g.118436617C>T, NC_000011.9:g.118307332C>G, NC_000011.9:g.118307332C>T, NG_027813.1:g.5128C>G, NG_027813.1:g.5128C>T, NM_005933.4:c.105C>G, NM_005933.4:c.105C>T, NM_005933.3:c.105C>G, NM_005933.3:c.105C>T, NM_001197104.2:c.105C>G, NM_001197104.2:c.105C>T, NM_001197104.1:c.105C>G, NM_001197104.1:c.105C>T, NW_003871072.2:g.62055C>G, NW_003871072.2:g.62055C>T, XM_006718839.4:c.105C>G, XM_006718839.4:c.105C>T, XM_006718839.3:c.105C>G, XM_006718839.3:c.105C>T, XM_006718839.2:c.105C>G, XM_006718839.2:c.105C>T, XM_011542829.3:c.105C>G, XM_011542829.3:c.105C>T, XM_011542829.2:c.105C>G, XM_011542829.2:c.105C>T, XM_011542829.1:c.105C>G, XM_011542829.1:c.105C>T, XM_011542830.3:c.105C>G, XM_011542830.3:c.105C>T, XM_011542830.2:c.105C>G, XM_011542830.2:c.105C>T, XM_011542830.1:c.105C>G, XM_011542830.1:c.105C>T, XM_011542831.3:c.105C>G, XM_011542831.3:c.105C>T, XM_011542831.2:c.105C>G, XM_011542831.2:c.105C>T, XM_011542831.1:c.105C>G, XM_011542831.1:c.105C>T, XM_011542833.3:c.105C>G, XM_011542833.3:c.105C>T, XM_011542833.2:c.105C>G, XM_011542833.2:c.105C>T, XM_011542833.1:c.105C>G, XM_011542833.1:c.105C>T, XM_047426963.1:c.105C>G, XM_047426963.1:c.105C>T, XM_047426964.1:c.105C>G, XM_047426964.1:c.105C>T
            11.

            rs1482202552 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C,T [Show Flanks]
              Chromosome:
              11:118436834 (GRCh38)
              11:118307549 (GRCh37)
              Canonical SPDI:
              NC_000011.10:118436833:G:C,NC_000011.10:118436833:G:T
              Gene:
              KMT2A (Varview)
              Functional Consequence:
              coding_sequence_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:
              NC_000011.10:g.118436834G>C, NC_000011.10:g.118436834G>T, NC_000011.9:g.118307549G>C, NC_000011.9:g.118307549G>T, NG_027813.1:g.5345G>C, NG_027813.1:g.5345G>T, NM_005933.4:c.322G>C, NM_005933.4:c.322G>T, NM_005933.3:c.322G>C, NM_005933.3:c.322G>T, NM_001197104.2:c.322G>C, NM_001197104.2:c.322G>T, NM_001197104.1:c.322G>C, NM_001197104.1:c.322G>T, NW_003871072.2:g.62272G>C, NW_003871072.2:g.62272G>T, XM_006718839.4:c.322G>C, XM_006718839.4:c.322G>T, XM_006718839.3:c.322G>C, XM_006718839.3:c.322G>T, XM_006718839.2:c.322G>C, XM_006718839.2:c.322G>T, XM_006718839.1:c.-186G>C, XM_006718839.1:c.-186G>T, XM_011542829.3:c.322G>C, XM_011542829.3:c.322G>T, XM_011542829.2:c.322G>C, XM_011542829.2:c.322G>T, XM_011542829.1:c.322G>C, XM_011542829.1:c.322G>T, XM_011542830.3:c.322G>C, XM_011542830.3:c.322G>T, XM_011542830.2:c.322G>C, XM_011542830.2:c.322G>T, XM_011542830.1:c.322G>C, XM_011542830.1:c.322G>T, XM_011542831.3:c.322G>C, XM_011542831.3:c.322G>T, XM_011542831.2:c.322G>C, XM_011542831.2:c.322G>T, XM_011542831.1:c.322G>C, XM_011542831.1:c.322G>T, XM_011542833.3:c.322G>C, XM_011542833.3:c.322G>T, XM_011542833.2:c.322G>C, XM_011542833.2:c.322G>T, XM_011542833.1:c.322G>C, XM_011542833.1:c.322G>T, XM_047426963.1:c.322G>C, XM_047426963.1:c.322G>T, XM_047426964.1:c.322G>C, XM_047426964.1:c.322G>T, NP_005924.2:p.Val108Leu, NP_005924.2:p.Val108Leu, NP_001184033.1:p.Val108Leu, NP_001184033.1:p.Val108Leu, XP_006718902.2:p.Val108Leu, XP_006718902.2:p.Val108Leu, XP_011541131.1:p.Val108Leu, XP_011541131.1:p.Val108Leu, XP_011541132.1:p.Val108Leu, XP_011541132.1:p.Val108Leu, XP_011541133.1:p.Val108Leu, XP_011541133.1:p.Val108Leu, XP_011541135.1:p.Val108Leu, XP_011541135.1:p.Val108Leu, XP_047282919.1:p.Val108Leu, XP_047282919.1:p.Val108Leu, XP_047282920.1:p.Val108Leu, XP_047282920.1:p.Val108Leu
              14.

              rs1477983581 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                11:118509158 (GRCh38)
                11:118379873 (GRCh37)
                Canonical SPDI:
                NC_000011.10:118509157:G:A,NC_000011.10:118509157:G:C,NC_000011.10:118509157:G:T
                Gene:
                KMT2A (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000011.10:g.118509158G>A, NC_000011.10:g.118509158G>C, NC_000011.10:g.118509158G>T, NC_000011.9:g.118379873G>A, NC_000011.9:g.118379873G>C, NC_000011.9:g.118379873G>T, NG_027813.1:g.77669G>A, NG_027813.1:g.77669G>C, NG_027813.1:g.77669G>T, NM_005933.4:c.10849G>A, NM_005933.4:c.10849G>C, NM_005933.4:c.10849G>T, NM_005933.3:c.10849G>A, NM_005933.3:c.10849G>C, NM_005933.3:c.10849G>T, NM_001197104.2:c.10858G>A, NM_001197104.2:c.10858G>C, NM_001197104.2:c.10858G>T, NM_001197104.1:c.10858G>A, NM_001197104.1:c.10858G>C, NM_001197104.1:c.10858G>T, NW_003871072.2:g.134596G>A, NW_003871072.2:g.134596G>C, NW_003871072.2:g.134596G>T, XM_006718839.4:c.8341G>A, XM_006718839.4:c.8341G>C, XM_006718839.4:c.8341G>T, XM_006718839.3:c.8341G>A, XM_006718839.3:c.8341G>C, XM_006718839.3:c.8341G>T, XM_006718839.2:c.8341G>A, XM_006718839.2:c.8341G>C, XM_006718839.2:c.8341G>T, XM_006718839.1:c.7834G>A, XM_006718839.1:c.7834G>C, XM_006718839.1:c.7834G>T, XM_011542829.3:c.10957G>A, XM_011542829.3:c.10957G>C, XM_011542829.3:c.10957G>T, XM_011542829.2:c.10957G>A, XM_011542829.2:c.10957G>C, XM_011542829.2:c.10957G>T, XM_011542829.1:c.10957G>A, XM_011542829.1:c.10957G>C, XM_011542829.1:c.10957G>T, XM_011542830.3:c.10954G>A, XM_011542830.3:c.10954G>C, XM_011542830.3:c.10954G>T, XM_011542830.2:c.10954G>A, XM_011542830.2:c.10954G>C, XM_011542830.2:c.10954G>T, XM_011542830.1:c.10954G>A, XM_011542830.1:c.10954G>C, XM_011542830.1:c.10954G>T, XM_011542831.3:c.10948G>A, XM_011542831.3:c.10948G>C, XM_011542831.3:c.10948G>T, XM_011542831.2:c.10948G>A, XM_011542831.2:c.10948G>C, XM_011542831.2:c.10948G>T, XM_011542831.1:c.10948G>A, XM_011542831.1:c.10948G>C, XM_011542831.1:c.10948G>T, XM_011542833.3:c.8440G>A, XM_011542833.3:c.8440G>C, XM_011542833.3:c.8440G>T, XM_011542833.2:c.8440G>A, XM_011542833.2:c.8440G>C, XM_011542833.2:c.8440G>T, XM_011542833.1:c.8440G>A, XM_011542833.1:c.8440G>C, XM_011542833.1:c.8440G>T, XM_047426963.1:c.10945G>A, XM_047426963.1:c.10945G>C, XM_047426963.1:c.10945G>T, XM_047426964.1:c.8332G>A, XM_047426964.1:c.8332G>C, XM_047426964.1:c.8332G>T, NP_005924.2:p.Val3617Ile, NP_005924.2:p.Val3617Leu, NP_005924.2:p.Val3617Phe, NP_001184033.1:p.Val3620Ile, NP_001184033.1:p.Val3620Leu, NP_001184033.1:p.Val3620Phe, XP_006718902.2:p.Val2781Ile, XP_006718902.2:p.Val2781Leu, XP_006718902.2:p.Val2781Phe, XP_011541131.1:p.Val3653Ile, XP_011541131.1:p.Val3653Leu, XP_011541131.1:p.Val3653Phe, XP_011541132.1:p.Val3652Ile, XP_011541132.1:p.Val3652Leu, XP_011541132.1:p.Val3652Phe, XP_011541133.1:p.Val3650Ile, XP_011541133.1:p.Val3650Leu, XP_011541133.1:p.Val3650Phe, XP_011541135.1:p.Val2814Ile, XP_011541135.1:p.Val2814Leu, XP_011541135.1:p.Val2814Phe, XP_047282919.1:p.Val3649Ile, XP_047282919.1:p.Val3649Leu, XP_047282919.1:p.Val3649Phe, XP_047282920.1:p.Val2778Ile, XP_047282920.1:p.Val2778Leu, XP_047282920.1:p.Val2778Phe
                16.

                rs1476788480 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  11:118495713 (GRCh38)
                  11:118366428 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:118495712:C:A,NC_000011.10:118495712:C:G
                  Gene:
                  KMT2A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000011.10:g.118495713C>A, NC_000011.10:g.118495713C>G, NC_000011.9:g.118366428C>A, NC_000011.9:g.118366428C>G, NG_027813.1:g.64224C>A, NG_027813.1:g.64224C>G, NM_005933.4:c.5368C>A, NM_005933.4:c.5368C>G, NM_005933.3:c.5368C>A, NM_005933.3:c.5368C>G, NM_001197104.2:c.5377C>A, NM_001197104.2:c.5377C>G, NM_001197104.1:c.5377C>A, NM_001197104.1:c.5377C>G, NW_003871072.2:g.121151C>A, NW_003871072.2:g.121151C>G, XM_006718839.4:c.2860C>A, XM_006718839.4:c.2860C>G, XM_006718839.3:c.2860C>A, XM_006718839.3:c.2860C>G, XM_006718839.2:c.2860C>A, XM_006718839.2:c.2860C>G, XM_006718839.1:c.2353C>A, XM_006718839.1:c.2353C>G, XM_011542829.3:c.5476C>A, XM_011542829.3:c.5476C>G, XM_011542829.2:c.5476C>A, XM_011542829.2:c.5476C>G, XM_011542829.1:c.5476C>A, XM_011542829.1:c.5476C>G, XM_011542830.3:c.5473C>A, XM_011542830.3:c.5473C>G, XM_011542830.2:c.5473C>A, XM_011542830.2:c.5473C>G, XM_011542830.1:c.5473C>A, XM_011542830.1:c.5473C>G, XM_011542831.3:c.5467C>A, XM_011542831.3:c.5467C>G, XM_011542831.2:c.5467C>A, XM_011542831.2:c.5467C>G, XM_011542831.1:c.5467C>A, XM_011542831.1:c.5467C>G, XM_011542833.3:c.2959C>A, XM_011542833.3:c.2959C>G, XM_011542833.2:c.2959C>A, XM_011542833.2:c.2959C>G, XM_011542833.1:c.2959C>A, XM_011542833.1:c.2959C>G, XM_047426963.1:c.5464C>A, XM_047426963.1:c.5464C>G, XM_047426964.1:c.2851C>A, XM_047426964.1:c.2851C>G, NP_005924.2:p.Pro1790Thr, NP_005924.2:p.Pro1790Ala, NP_001184033.1:p.Pro1793Thr, NP_001184033.1:p.Pro1793Ala, XP_006718902.2:p.Pro954Thr, XP_006718902.2:p.Pro954Ala, XP_011541131.1:p.Pro1826Thr, XP_011541131.1:p.Pro1826Ala, XP_011541132.1:p.Pro1825Thr, XP_011541132.1:p.Pro1825Ala, XP_011541133.1:p.Pro1823Thr, XP_011541133.1:p.Pro1823Ala, XP_011541135.1:p.Pro987Thr, XP_011541135.1:p.Pro987Ala, XP_047282919.1:p.Pro1822Thr, XP_047282919.1:p.Pro1822Ala, XP_047282920.1:p.Pro951Thr, XP_047282920.1:p.Pro951Ala
                  18.

                  rs1474621384 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    11:118473545 (GRCh38)
                    11:118344260 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:118473544:T:A,NC_000011.10:118473544:T:C
                    Gene:
                    KMT2A (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000011.10:g.118473545T>A, NC_000011.10:g.118473545T>C, NC_000011.9:g.118344260T>A, NC_000011.9:g.118344260T>C, NG_027813.1:g.42056T>A, NG_027813.1:g.42056T>C, NM_005933.4:c.2386T>A, NM_005933.4:c.2386T>C, NM_005933.3:c.2386T>A, NM_005933.3:c.2386T>C, NM_001197104.2:c.2386T>A, NM_001197104.2:c.2386T>C, NM_001197104.1:c.2386T>A, NM_001197104.1:c.2386T>C, NW_003871072.2:g.98983T>A, NW_003871072.2:g.98983T>C, XM_011542829.3:c.2485T>A, XM_011542829.3:c.2485T>C, XM_011542829.2:c.2485T>A, XM_011542829.2:c.2485T>C, XM_011542829.1:c.2485T>A, XM_011542829.1:c.2485T>C, XM_011542830.3:c.2485T>A, XM_011542830.3:c.2485T>C, XM_011542830.2:c.2485T>A, XM_011542830.2:c.2485T>C, XM_011542830.1:c.2485T>A, XM_011542830.1:c.2485T>C, XM_011542831.3:c.2485T>A, XM_011542831.3:c.2485T>C, XM_011542831.2:c.2485T>A, XM_011542831.2:c.2485T>C, XM_011542831.1:c.2485T>A, XM_011542831.1:c.2485T>C, XM_047426963.1:c.2485T>A, XM_047426963.1:c.2485T>C, NP_005924.2:p.Phe796Ile, NP_005924.2:p.Phe796Leu, NP_001184033.1:p.Phe796Ile, NP_001184033.1:p.Phe796Leu, XP_011541131.1:p.Phe829Ile, XP_011541131.1:p.Phe829Leu, XP_011541132.1:p.Phe829Ile, XP_011541132.1:p.Phe829Leu, XP_011541133.1:p.Phe829Ile, XP_011541133.1:p.Phe829Leu, XP_047282919.1:p.Phe829Ile, XP_047282919.1:p.Phe829Leu
                    19.

                    rs1473869242 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G,T [Show Flanks]
                      Chromosome:
                      11:118503649 (GRCh38)
                      11:118374364 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:118503648:C:A,NC_000011.10:118503648:C:G,NC_000011.10:118503648:C:T
                      Gene:
                      KMT2A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      G=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000011.10:g.118503649C>A, NC_000011.10:g.118503649C>G, NC_000011.10:g.118503649C>T, NC_000011.9:g.118374364C>A, NC_000011.9:g.118374364C>G, NC_000011.9:g.118374364C>T, NG_027813.1:g.72160C>A, NG_027813.1:g.72160C>G, NG_027813.1:g.72160C>T, NM_005933.4:c.7748C>A, NM_005933.4:c.7748C>G, NM_005933.4:c.7748C>T, NM_005933.3:c.7748C>A, NM_005933.3:c.7748C>G, NM_005933.3:c.7748C>T, NM_001197104.2:c.7757C>A, NM_001197104.2:c.7757C>G, NM_001197104.2:c.7757C>T, NM_001197104.1:c.7757C>A, NM_001197104.1:c.7757C>G, NM_001197104.1:c.7757C>T, NW_003871072.2:g.129087C>A, NW_003871072.2:g.129087C>G, NW_003871072.2:g.129087C>T, XM_006718839.4:c.5240C>A, XM_006718839.4:c.5240C>G, XM_006718839.4:c.5240C>T, XM_006718839.3:c.5240C>A, XM_006718839.3:c.5240C>G, XM_006718839.3:c.5240C>T, XM_006718839.2:c.5240C>A, XM_006718839.2:c.5240C>G, XM_006718839.2:c.5240C>T, XM_006718839.1:c.4733C>A, XM_006718839.1:c.4733C>G, XM_006718839.1:c.4733C>T, XM_011542829.3:c.7856C>A, XM_011542829.3:c.7856C>G, XM_011542829.3:c.7856C>T, XM_011542829.2:c.7856C>A, XM_011542829.2:c.7856C>G, XM_011542829.2:c.7856C>T, XM_011542829.1:c.7856C>A, XM_011542829.1:c.7856C>G, XM_011542829.1:c.7856C>T, XM_011542830.3:c.7853C>A, XM_011542830.3:c.7853C>G, XM_011542830.3:c.7853C>T, XM_011542830.2:c.7853C>A, XM_011542830.2:c.7853C>G, XM_011542830.2:c.7853C>T, XM_011542830.1:c.7853C>A, XM_011542830.1:c.7853C>G, XM_011542830.1:c.7853C>T, XM_011542831.3:c.7847C>A, XM_011542831.3:c.7847C>G, XM_011542831.3:c.7847C>T, XM_011542831.2:c.7847C>A, XM_011542831.2:c.7847C>G, XM_011542831.2:c.7847C>T, XM_011542831.1:c.7847C>A, XM_011542831.1:c.7847C>G, XM_011542831.1:c.7847C>T, XM_011542833.3:c.5339C>A, XM_011542833.3:c.5339C>G, XM_011542833.3:c.5339C>T, XM_011542833.2:c.5339C>A, XM_011542833.2:c.5339C>G, XM_011542833.2:c.5339C>T, XM_011542833.1:c.5339C>A, XM_011542833.1:c.5339C>G, XM_011542833.1:c.5339C>T, XM_047426963.1:c.7844C>A, XM_047426963.1:c.7844C>G, XM_047426963.1:c.7844C>T, XM_047426964.1:c.5231C>A, XM_047426964.1:c.5231C>G, XM_047426964.1:c.5231C>T, NP_005924.2:p.Ser2583Tyr, NP_005924.2:p.Ser2583Cys, NP_005924.2:p.Ser2583Phe, NP_001184033.1:p.Ser2586Tyr, NP_001184033.1:p.Ser2586Cys, NP_001184033.1:p.Ser2586Phe, XP_006718902.2:p.Ser1747Tyr, XP_006718902.2:p.Ser1747Cys, XP_006718902.2:p.Ser1747Phe, XP_011541131.1:p.Ser2619Tyr, XP_011541131.1:p.Ser2619Cys, XP_011541131.1:p.Ser2619Phe, XP_011541132.1:p.Ser2618Tyr, XP_011541132.1:p.Ser2618Cys, XP_011541132.1:p.Ser2618Phe, XP_011541133.1:p.Ser2616Tyr, XP_011541133.1:p.Ser2616Cys, XP_011541133.1:p.Ser2616Phe, XP_011541135.1:p.Ser1780Tyr, XP_011541135.1:p.Ser1780Cys, XP_011541135.1:p.Ser1780Phe, XP_047282919.1:p.Ser2615Tyr, XP_047282919.1:p.Ser2615Cys, XP_047282919.1:p.Ser2615Phe, XP_047282920.1:p.Ser1744Tyr, XP_047282920.1:p.Ser1744Cys, XP_047282920.1:p.Ser1744Phe
                      20.

                      rs1473735619 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        11:118504228 (GRCh38)
                        11:118374943 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:118504227:A:G,NC_000011.10:118504227:A:T
                        Gene:
                        KMT2A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000011.10:g.118504228A>G, NC_000011.10:g.118504228A>T, NC_000011.9:g.118374943A>G, NC_000011.9:g.118374943A>T, NG_027813.1:g.72739A>G, NG_027813.1:g.72739A>T, NM_005933.4:c.8327A>G, NM_005933.4:c.8327A>T, NM_005933.3:c.8327A>G, NM_005933.3:c.8327A>T, NM_001197104.2:c.8336A>G, NM_001197104.2:c.8336A>T, NM_001197104.1:c.8336A>G, NM_001197104.1:c.8336A>T, NW_003871072.2:g.129666A>G, NW_003871072.2:g.129666A>T, XM_006718839.4:c.5819A>G, XM_006718839.4:c.5819A>T, XM_006718839.3:c.5819A>G, XM_006718839.3:c.5819A>T, XM_006718839.2:c.5819A>G, XM_006718839.2:c.5819A>T, XM_006718839.1:c.5312A>G, XM_006718839.1:c.5312A>T, XM_011542829.3:c.8435A>G, XM_011542829.3:c.8435A>T, XM_011542829.2:c.8435A>G, XM_011542829.2:c.8435A>T, XM_011542829.1:c.8435A>G, XM_011542829.1:c.8435A>T, XM_011542830.3:c.8432A>G, XM_011542830.3:c.8432A>T, XM_011542830.2:c.8432A>G, XM_011542830.2:c.8432A>T, XM_011542830.1:c.8432A>G, XM_011542830.1:c.8432A>T, XM_011542831.3:c.8426A>G, XM_011542831.3:c.8426A>T, XM_011542831.2:c.8426A>G, XM_011542831.2:c.8426A>T, XM_011542831.1:c.8426A>G, XM_011542831.1:c.8426A>T, XM_011542833.3:c.5918A>G, XM_011542833.3:c.5918A>T, XM_011542833.2:c.5918A>G, XM_011542833.2:c.5918A>T, XM_011542833.1:c.5918A>G, XM_011542833.1:c.5918A>T, XM_047426963.1:c.8423A>G, XM_047426963.1:c.8423A>T, XM_047426964.1:c.5810A>G, XM_047426964.1:c.5810A>T, NP_005924.2:p.Asn2776Ser, NP_005924.2:p.Asn2776Ile, NP_001184033.1:p.Asn2779Ser, NP_001184033.1:p.Asn2779Ile, XP_006718902.2:p.Asn1940Ser, XP_006718902.2:p.Asn1940Ile, XP_011541131.1:p.Asn2812Ser, XP_011541131.1:p.Asn2812Ile, XP_011541132.1:p.Asn2811Ser, XP_011541132.1:p.Asn2811Ile, XP_011541133.1:p.Asn2809Ser, XP_011541133.1:p.Asn2809Ile, XP_011541135.1:p.Asn1973Ser, XP_011541135.1:p.Asn1973Ile, XP_047282919.1:p.Asn2808Ser, XP_047282919.1:p.Asn2808Ile, XP_047282920.1:p.Asn1937Ser, XP_047282920.1:p.Asn1937Ile

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