Canonical Allele Identifier: CA597109023

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1278285271
• gnomAD v2: 11-2591855-C-A
• gnomAD v4: 11-2570625-C-A
• MyVariant Identifiers: chr11:g.2591855C>A (hg19) ; chr11:g.2570625C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570625C>A , CM000673.2:g.2570625C>A	GRCh38
NC_000011.9:g.2591855C>A , CM000673.1:g.2591855C>A	GRCh37
NC_000011.8:g.2548431C>A	NCBI36
NG_008935.1:g.130635C>A , LRG_287:g.130635C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.217-3C>A	ENSP00000434560.2:n.217-3C>A
ENST00000646564.2:c.478-12810C>A	ENSP00000495806.2:n.478-12810C>A
ENST00000155840.12:c.478-3C>A MANE Select	ENSP00000155840.2:n.478-3C>A
ENST00000335475.6:c.97-3C>A	ENSP00000334497.5:n.97-3C>A
ENST00000646564.1:c.124-12810C>A	ENSP00000495806.1:n.124-12810C>A
ENST00000155840.9:c.478-3C>A	ENSP00000155840.2:n.478-3C>A
ENST00000335475.5:c.97-3C>A	ENSP00000334497.5:n.97-3C>A
ENST00000496887.6:c.217-3C>A	ENSP00000434560.1:n.217-3C>A
NM_000218.2:c.478-3C>A , LRG_287t1:c.478-3C>A	NP_000209.2:n.478-3C>A
NM_181798.1:c.97-3C>A , LRG_287t2:c.97-3C>A	NP_861463.1:n.97-3C>A
NM_000218.3:c.478-3C>A MANE Select	NP_000209.2:n.478-3C>A