Canonical Allele Identifier: CA597432416
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1469863177
gnomAD v2: 11-2466292-G-A
gnomAD v4: 11-2445062-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445062G>A , CM000673.2:g.2445062G>A GRCh38
NC_000011.9:g.2466292G>A , CM000673.1:g.2466292G>A GRCh37
NC_000011.8:g.2422868G>A NCBI36
NG_008935.1:g.5072G>A , LRG_287:g.5072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-321G>A ENSP00000434560.2:n.24-321G>A
ENST00000646564.2:c.-37G>A ENSP00000495806.2:n.-37G>A
ENST00000155840.12:c.-37G>A MANE Select ENSP00000155840.2:n.-37G>A
ENST00000155840.9:c.-37G>A ENSP00000155840.2:n.-37G>A
ENST00000496887.6:c.24-321G>A ENSP00000434560.1:n.24-321G>A
NM_000218.2:c.-37G>A , LRG_287t1:c.-37G>A NP_000209.2:n.-37G>A
NM_000218.3:c.-37G>A MANE Select NP_000209.2:n.-37G>A