Canonical Allele Identifier: CA006232

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53009
• ClinVar RCV Id: RCV000057622 ; RCV000250706 ; RCV000505735 ; RCV000678815 ; RCV001192510 ; RCV002496701
• dbSNP Id: rs199472807
• gnomAD v4: 11-2777002-G-A
• MyVariant Identifiers: chr11:g.2798232G>A (hg19) ; chr11:g.2777002G>A (hg38)
• PubMed: PMID:15840476 ; PMID:18218681 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653 ; PMID:22885918 ; PMID:23392653 ; PMID:27041096 ; PMID:27041150

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777002G>A , CM000673.2:g.2777002G>A	GRCh38
NC_000011.9:g.2798232G>A , CM000673.1:g.2798232G>A	GRCh37
NC_000011.8:g.2754808G>A	NCBI36
NG_008935.1:g.337012G>A , LRG_287:g.337012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1345G>A	ENSP00000434560.2:p.Gly449Arg
ENST00000646564.2:c.1162G>A	ENSP00000495806.2:p.Gly388Arg
ENST00000155840.12:c.1702G>A MANE Select	ENSP00000155840.2:p.Gly568Arg
ENST00000335475.6:c.1321G>A	ENSP00000334497.5:p.Gly441Arg
ENST00000646564.1:c.808G>A	ENSP00000495806.1:p.Gly270Arg
ENST00000155840.9:c.1702G>A	ENSP00000155840.2:p.Gly568Arg
ENST00000335475.5:c.1321G>A	ENSP00000334497.5:p.Gly441Arg
NM_000218.2:c.1702G>A , LRG_287t1:c.1702G>A	NP_000209.2:p.Gly568Arg
NM_181798.1:c.1321G>A , LRG_287t2:c.1321G>A	NP_861463.1:p.Gly441Arg
NM_000218.3:c.1702G>A MANE Select	NP_000209.2:p.Gly568Arg