Canonical Allele Identifier: CA008777

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53136
• ClinVar RCV Id: RCV000057811 ; RCV000621036
• dbSNP Id: rs120074184
• MyVariant Identifiers: chr11:g.2604683G>C (hg19) ; chr11:g.2583453G>C (hg38)
• PubMed: PMID:8872472 ; PMID:9312006 ; PMID:15466642 ; PMID:15840476 ; PMID:16253912 ; PMID:22581653

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.679G>C	ENSP00000434560.2:p.Gly227Arg
ENST00000646564.2:c.496G>C	ENSP00000495806.2:p.Gly166Arg
ENST00000155840.12:c.940G>C MANE Select	ENSP00000155840.2:p.Gly314Arg
ENST00000335475.6:c.559G>C	ENSP00000334497.5:p.Gly187Arg
ENST00000646564.1:c.142G>C	ENSP00000495806.1:p.Gly48Arg
ENST00000155840.9:c.940G>C	ENSP00000155840.2:p.Gly314Arg
ENST00000335475.5:c.559G>C	ENSP00000334497.5:p.Gly187Arg
NM_000218.2:c.940G>C , LRG_287t1:c.940G>C	NP_000209.2:p.Gly314Arg
NM_181798.1:c.559G>C , LRG_287t2:c.559G>C	NP_861463.1:p.Gly187Arg
NM_000218.3:c.940G>C MANE Select	NP_000209.2:p.Gly314Arg