Canonical Allele Identifier: CA379139779

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2981292
• ClinVar RCV Id: RCV003832434
• gnomAD v4: 11-2778026-G-A
• MyVariant Identifiers: chr11:g.2799256G>A (hg19) ; chr11:g.2778026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778026G>A , CM000673.2:g.2778026G>A	GRCh38
NC_000011.9:g.2799256G>A , CM000673.1:g.2799256G>A	GRCh37
NC_000011.8:g.2755832G>A	NCBI36
NG_008935.1:g.338036G>A , LRG_287:g.338036G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1426G>A	ENSP00000434560.2:p.Val476Ile
ENST00000646564.2:c.1243G>A	ENSP00000495806.2:p.Val415Ile
ENST00000155840.12:c.1783G>A MANE Select	ENSP00000155840.2:p.Val595Ile
ENST00000335475.6:c.1402G>A	ENSP00000334497.5:p.Val468Ile
ENST00000526095.2:c.187G>A	ENSP00000494939.1:p.Val63Ile
ENST00000646564.1:c.889G>A	ENSP00000495806.1:p.Val297Ile
ENST00000155840.9:c.1783G>A	ENSP00000155840.2:p.Val595Ile
ENST00000335475.5:c.1402G>A	ENSP00000334497.5:p.Val468Ile
ENST00000526095.1:n.290G>A
NM_000218.2:c.1783G>A , LRG_287t1:c.1783G>A	NP_000209.2:p.Val595Ile
NM_181798.1:c.1402G>A , LRG_287t2:c.1402G>A	NP_861463.1:p.Val468Ile
NM_000218.3:c.1783G>A MANE Select	NP_000209.2:p.Val595Ile