Canonical Allele Identifier: CA005923
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67038
dbSNP Id: rs199472788
gnomAD v2: 11-2790115-G-A
gnomAD v3: 11-2768885-G-A
gnomAD v4: 11-2768885-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768885G>A , CM000673.2:g.2768885G>A GRCh38
NC_000011.9:g.2790115G>A , CM000673.1:g.2790115G>A GRCh37
NC_000011.8:g.2746691G>A NCBI36
NG_008935.1:g.328895G>A , LRG_287:g.328895G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1199G>A ENSP00000434560.2:p.Arg400His
ENST00000646564.2:c.1016G>A ENSP00000495806.2:p.Arg339His
ENST00000155840.12:c.1556G>A MANE Select ENSP00000155840.2:p.Arg519His
ENST00000335475.6:c.1175G>A ENSP00000334497.5:p.Arg392His
ENST00000646564.1:c.662G>A ENSP00000495806.1:p.Arg221His
ENST00000155840.9:c.1556G>A ENSP00000155840.2:p.Arg519His
ENST00000335475.5:c.1175G>A ENSP00000334497.5:p.Arg392His
NM_000218.2:c.1556G>A , LRG_287t1:c.1556G>A NP_000209.2:p.Arg519His
NM_181798.1:c.1175G>A , LRG_287t2:c.1175G>A NP_861463.1:p.Arg392His
NM_000218.3:c.1556G>A MANE Select NP_000209.2:p.Arg519His