Canonical Allele Identifier: CA005089

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67007
• ClinVar RCV Id: RCV000057539
• dbSNP Id: rs199472824
• MyVariant Identifiers: chr11:g.2606457G>A (hg19) ; chr11:g.2585227G>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585227G>A , CM000673.2:g.2585227G>A	GRCh38
NC_000011.9:g.2606457G>A , CM000673.1:g.2606457G>A	GRCh37
NC_000011.8:g.2563033G>A	NCBI36
NG_008935.1:g.145237G>A , LRG_287:g.145237G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1682G>A	ENSP00000434560.2:n.771+1682G>A
ENST00000646564.2:c.588+1682G>A	ENSP00000495806.2:n.588+1682G>A
ENST00000155840.12:c.1048G>A MANE Select	ENSP00000155840.2:p.Gly350Arg
ENST00000335475.6:c.667G>A	ENSP00000334497.5:p.Gly223Arg
ENST00000646564.1:c.234+1682G>A	ENSP00000495806.1:n.234+1682G>A
ENST00000155840.9:c.1048G>A	ENSP00000155840.2:p.Gly350Arg
ENST00000335475.5:c.667G>A	ENSP00000334497.5:p.Gly223Arg
NM_000218.2:c.1048G>A , LRG_287t1:c.1048G>A	NP_000209.2:p.Gly350Arg
NM_181798.1:c.667G>A , LRG_287t2:c.667G>A	NP_861463.1:p.Gly223Arg
NM_000218.3:c.1048G>A MANE Select	NP_000209.2:p.Gly350Arg