Canonical Allele Identifier: CA472037776

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1745022
• ClinVar RCV Id: RCV002335727
• gnomAD v4: 11-2570654-G-A
• MyVariant Identifiers: chr11:g.2591884G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570654G>A , CM000673.2:g.2570654G>A	GRCh38
NC_000011.9:g.2591884G>A , CM000673.1:g.2591884G>A	GRCh37
NC_000011.8:g.2548460G>A	NCBI36
NG_008935.1:g.130664G>A , LRG_287:g.130664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.243G>A	ENSP00000434560.2:p.Gly81=
ENST00000646564.2:c.478-12781G>A	ENSP00000495806.2:n.478-12781G>A
ENST00000155840.12:c.504G>A MANE Select	ENSP00000155840.2:p.Gly168=
ENST00000335475.6:c.123G>A	ENSP00000334497.5:p.Gly41=
ENST00000646564.1:c.124-12781G>A	ENSP00000495806.1:n.124-12781G>A
ENST00000155840.9:c.504G>A	ENSP00000155840.2:p.Gly168=
ENST00000335475.5:c.123G>A	ENSP00000334497.5:p.Gly41=
ENST00000496887.6:c.243G>A	ENSP00000434560.1:p.Gly81=
NM_000218.2:c.504G>A , LRG_287t1:c.504G>A	NP_000209.2:p.Gly168=
NM_181798.1:c.123G>A , LRG_287t2:c.123G>A	NP_861463.1:p.Gly41=
NM_000218.3:c.504G>A MANE Select	NP_000209.2:p.Gly168=