Canonical Allele Identifier: CA008786

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53137
• ClinVar RCV Id: RCV000057812
• dbSNP Id: rs120074184
• MyVariant Identifiers: chr11:g.2604683G>T (hg19) ; chr11:g.2583453G>T (hg38)
• PubMed: PMID:12702160 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583453G>T , CM000673.2:g.2583453G>T	GRCh38
NC_000011.9:g.2604683G>T , CM000673.1:g.2604683G>T	GRCh37
NC_000011.8:g.2561259G>T	NCBI36
NG_008935.1:g.143463G>T , LRG_287:g.143463G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.679G>T	ENSP00000434560.2:p.Gly227Cys
ENST00000646564.2:c.496G>T	ENSP00000495806.2:p.Gly166Cys
ENST00000155840.12:c.940G>T MANE Select	ENSP00000155840.2:p.Gly314Cys
ENST00000335475.6:c.559G>T	ENSP00000334497.5:p.Gly187Cys
ENST00000646564.1:c.142G>T	ENSP00000495806.1:p.Gly48Cys
ENST00000155840.9:c.940G>T	ENSP00000155840.2:p.Gly314Cys
ENST00000335475.5:c.559G>T	ENSP00000334497.5:p.Gly187Cys
NM_000218.2:c.940G>T , LRG_287t1:c.940G>T	NP_000209.2:p.Gly314Cys
NM_181798.1:c.559G>T , LRG_287t2:c.559G>T	NP_861463.1:p.Gly187Cys
NM_000218.3:c.940G>T MANE Select	NP_000209.2:p.Gly314Cys