Canonical Allele Identifier: CA007986

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53090
• ClinVar RCV Id: RCV002371885 ; RCV003319312
• dbSNP Id: rs199472712
• ExAC: 11:2593283 G / A
• gnomAD v2: 11-2593283-G-A
• gnomAD v4: 11-2572053-G-A
• MyVariant Identifiers: chr11:g.2593283G>A (hg19) ; chr11:g.2572053G>A (hg38)
• PubMed: PMID:9799083 ; PMID:15840476 ; PMID:17470695 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572053G>A , CM000673.2:g.2572053G>A	GRCh38
NC_000011.9:g.2593283G>A , CM000673.1:g.2593283G>A	GRCh37
NC_000011.8:g.2549859G>A	NCBI36
NG_008935.1:g.132063G>A , LRG_287:g.132063G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.463G>A	ENSP00000434560.2:p.Asp155Asn
ENST00000646564.2:c.478-11382G>A	ENSP00000495806.2:n.478-11382G>A
ENST00000155840.12:c.724G>A MANE Select	ENSP00000155840.2:p.Asp242Asn
ENST00000335475.6:c.343G>A	ENSP00000334497.5:p.Asp115Asn
ENST00000646564.1:c.124-11382G>A	ENSP00000495806.1:n.124-11382G>A
ENST00000155840.9:c.724G>A	ENSP00000155840.2:p.Asp242Asn
ENST00000335475.5:c.343G>A	ENSP00000334497.5:p.Asp115Asn
ENST00000496887.6:c.463G>A	ENSP00000434560.1:p.Asp155Asn
NM_000218.2:c.724G>A , LRG_287t1:c.724G>A	NP_000209.2:p.Asp242Asn
NM_181798.1:c.343G>A , LRG_287t2:c.343G>A	NP_861463.1:p.Asp115Asn
NM_000218.3:c.724G>A MANE Select	NP_000209.2:p.Asp242Asn