Canonical Allele Identifier: CA008634

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3115
• ClinVar RCV Id: RCV000003262 ; RCV000057797 ; RCV000182132
• dbSNP Id: rs120074181
• MyVariant Identifiers: chr11:g.2594211G>A (hg19) ; chr11:g.2572981G>A (hg38)
• PubMed: PMID:8528244 ; PMID:10376919 ; PMID:11351021 ; PMID:14678125 ; PMID:15234419 ; PMID:17470695 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572981G>A , CM000673.2:g.2572981G>A	GRCh38
NC_000011.9:g.2594211G>A , CM000673.1:g.2594211G>A	GRCh37
NC_000011.8:g.2550787G>A	NCBI36
NG_008935.1:g.132991G>A , LRG_287:g.132991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.655G>A	ENSP00000434560.2:p.Gly219Arg
ENST00000646564.2:c.478-10454G>A	ENSP00000495806.2:n.478-10454G>A
ENST00000155840.12:c.916G>A MANE Select	ENSP00000155840.2:p.Gly306Arg
ENST00000335475.6:c.535G>A	ENSP00000334497.5:p.Gly179Arg
ENST00000646564.1:c.124-10454G>A	ENSP00000495806.1:n.124-10454G>A
ENST00000155840.9:c.916G>A	ENSP00000155840.2:p.Gly306Arg
ENST00000335475.5:c.535G>A	ENSP00000334497.5:p.Gly179Arg
NM_000218.2:c.916G>A , LRG_287t1:c.916G>A	NP_000209.2:p.Gly306Arg
NM_181798.1:c.535G>A , LRG_287t2:c.535G>A	NP_861463.1:p.Gly179Arg
NM_000218.3:c.916G>A MANE Select	NP_000209.2:p.Gly306Arg