Canonical Allele Identifier: CA216306786

Gene: KCNQ1

Linked Data

• dbSNP Id: rs998220002
• gnomAD v3: 11-2463453-G-A
• gnomAD v4: 11-2463453-G-A
• MyVariant Identifiers: chr11:g.2484683G>A (hg19) ; chr11:g.2463453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2463453G>A , CM000673.2:g.2463453G>A	GRCh38
NC_000011.9:g.2484683G>A , CM000673.1:g.2484683G>A	GRCh37
NC_000011.8:g.2441259G>A	NCBI36
NG_008935.1:g.23463G>A , LRG_287:g.23463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.91+1476G>A
ENST00000496887.7:c.125+17969G>A	ENSP00000434560.2:n.125+17969G>A
ENST00000646564.2:c.386+17969G>A	ENSP00000495806.2:n.386+17969G>A
ENST00000155840.12:c.386+17969G>A MANE Select	ENSP00000155840.2:n.386+17969G>A
ENST00000335475.6:c.5+1739G>A	ENSP00000334497.5:n.5+1739G>A
ENST00000646564.1:c.32+17969G>A	ENSP00000495806.1:n.32+17969G>A
ENST00000155840.9:c.386+17969G>A	ENSP00000155840.2:n.386+17969G>A
ENST00000335475.5:c.5+1739G>A	ENSP00000334497.5:n.5+1739G>A
ENST00000345015.4:n.163+17969G>A
ENST00000380776.4:c.84+1476G>A	ENSP00000370153.4:n.84+1476G>A
ENST00000496887.6:c.125+17969G>A	ENSP00000434560.1:n.125+17969G>A
NM_000218.2:c.386+17969G>A , LRG_287t1:c.386+17969G>A	NP_000209.2:n.386+17969G>A
NM_181798.1:c.5+1739G>A , LRG_287t2:c.5+1739G>A	NP_861463.1:n.5+1739G>A
NM_000218.3:c.386+17969G>A MANE Select	NP_000209.2:n.386+17969G>A