Canonical Allele Identifier: CA472038202

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2146088
• ClinVar RCV Id: RCV003066951 ; RCV003591980
• gnomAD v4: 11-2572983-G-A
• MyVariant Identifiers: chr11:g.2594213G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572983G>A , CM000673.2:g.2572983G>A	GRCh38
NC_000011.9:g.2594213G>A , CM000673.1:g.2594213G>A	GRCh37
NC_000011.8:g.2550789G>A	NCBI36
NG_008935.1:g.132993G>A , LRG_287:g.132993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.657G>A	ENSP00000434560.2:p.Gly219=
ENST00000646564.2:c.478-10452G>A	ENSP00000495806.2:n.478-10452G>A
ENST00000155840.12:c.918G>A MANE Select	ENSP00000155840.2:p.Gly306=
ENST00000335475.6:c.537G>A	ENSP00000334497.5:p.Gly179=
ENST00000646564.1:c.124-10452G>A	ENSP00000495806.1:n.124-10452G>A
ENST00000155840.9:c.918G>A	ENSP00000155840.2:p.Gly306=
ENST00000335475.5:c.537G>A	ENSP00000334497.5:p.Gly179=
NM_000218.2:c.918G>A , LRG_287t1:c.918G>A	NP_000209.2:p.Gly306=
NM_181798.1:c.537G>A , LRG_287t2:c.537G>A	NP_861463.1:p.Gly179=
NM_000218.3:c.918G>A MANE Select	NP_000209.2:p.Gly306=