Canonical Allele Identifier: CA934454291
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1589883823
gnomAD v3: 11-2444662-A-G
gnomAD v4: 11-2444662-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444662A>G , CM000673.2:g.2444662A>G GRCh38
NC_000011.9:g.2465892A>G , CM000673.1:g.2465892A>G GRCh37
NC_000011.8:g.2422468A>G NCBI36
NG_008935.1:g.4672A>G , LRG_287:g.4672A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.-24A>G ENSP00000434560.2:n.-24A>G