Canonical Allele Identifier: CA379139200

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2776028-G-A
• MyVariant Identifiers: chr11:g.2797258G>A (hg19) ; chr11:g.2776028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776028G>A , CM000673.2:g.2776028G>A	GRCh38
NC_000011.9:g.2797258G>A , CM000673.1:g.2797258G>A	GRCh37
NC_000011.8:g.2753834G>A	NCBI36
NG_008935.1:g.336038G>A , LRG_287:g.336038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1302G>A	ENSP00000434560.2:p.Met434Ile
ENST00000646564.2:c.1119G>A	ENSP00000495806.2:p.Met373Ile
ENST00000155840.12:c.1659G>A MANE Select	ENSP00000155840.2:p.Met553Ile
ENST00000335475.6:c.1278G>A	ENSP00000334497.5:p.Met426Ile
ENST00000646564.1:c.765G>A	ENSP00000495806.1:p.Met255Ile
ENST00000155840.9:c.1659G>A	ENSP00000155840.2:p.Met553Ile
ENST00000335475.5:c.1278G>A	ENSP00000334497.5:p.Met426Ile
NM_000218.2:c.1659G>A , LRG_287t1:c.1659G>A	NP_000209.2:p.Met553Ile
NM_181798.1:c.1278G>A , LRG_287t2:c.1278G>A	NP_861463.1:p.Met426Ile
NM_000218.3:c.1659G>A MANE Select	NP_000209.2:p.Met553Ile