Canonical Allele Identifier: CA005326

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52961
• ClinVar RCV Id: RCV000045965 ; RCV000057558 ; RCV000618916 ; RCV000721103 ; RCV001841624
• dbSNP Id: rs199472767
• gnomAD v2: 11-2606530-T-A
• gnomAD v4: 11-2585300-T-A
• MyVariant Identifiers: chr11:g.2606530T>A (hg19) ; chr11:g.2585300T>A (hg38)
• PubMed: PMID:15840476 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585300T>A , CM000673.2:g.2585300T>A	GRCh38
NC_000011.9:g.2606530T>A , CM000673.1:g.2606530T>A	GRCh37
NC_000011.8:g.2563106T>A	NCBI36
NG_008935.1:g.145310T>A , LRG_287:g.145310T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1755T>A	ENSP00000434560.2:n.771+1755T>A
ENST00000646564.2:c.588+1755T>A	ENSP00000495806.2:n.588+1755T>A
ENST00000155840.12:c.1121T>A MANE Select	ENSP00000155840.2:p.Leu374His
ENST00000335475.6:c.740T>A	ENSP00000334497.5:p.Leu247His
ENST00000646564.1:c.234+1755T>A	ENSP00000495806.1:n.234+1755T>A
ENST00000155840.9:c.1121T>A	ENSP00000155840.2:p.Leu374His
ENST00000335475.5:c.740T>A	ENSP00000334497.5:p.Leu247His
NM_000218.2:c.1121T>A , LRG_287t1:c.1121T>A	NP_000209.2:p.Leu374His
NM_181798.1:c.740T>A , LRG_287t2:c.740T>A	NP_861463.1:p.Leu247His
NM_000218.3:c.1121T>A MANE Select	NP_000209.2:p.Leu374His