Canonical Allele Identifier: CA379116756

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2445312-G-A
• MyVariant Identifiers: chr11:g.2466542G>A (hg19) ; chr11:g.2445312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445312G>A , CM000673.2:g.2445312G>A	GRCh38
NC_000011.9:g.2466542G>A , CM000673.1:g.2466542G>A	GRCh37
NC_000011.8:g.2423118G>A	NCBI36
NG_008935.1:g.5322G>A , LRG_287:g.5322G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-71G>A	ENSP00000434560.2:n.24-71G>A
ENST00000646564.2:c.214G>A	ENSP00000495806.2:p.Ala72Thr
ENST00000155840.12:c.214G>A MANE Select	ENSP00000155840.2:p.Ala72Thr
ENST00000155840.9:c.214G>A	ENSP00000155840.2:p.Ala72Thr
ENST00000496887.6:c.24-71G>A	ENSP00000434560.1:n.24-71G>A
NM_000218.2:c.214G>A , LRG_287t1:c.214G>A	NP_000209.2:p.Ala72Thr
NM_000218.3:c.214G>A MANE Select	NP_000209.2:p.Ala72Thr