Canonical Allele Identifier: CA379133027

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 660595
• ClinVar RCV Id: RCV000817822
• dbSNP Id: rs199472756
• MyVariant Identifiers: chr11:g.2604716G>C (hg19) ; chr11:g.2583486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583486G>C , CM000673.2:g.2583486G>C	GRCh38
NC_000011.9:g.2604716G>C , CM000673.1:g.2604716G>C	GRCh37
NC_000011.8:g.2561292G>C	NCBI36
NG_008935.1:g.143496G>C , LRG_287:g.143496G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.712G>C	ENSP00000434560.2:p.Gly238Arg
ENST00000646564.2:c.529G>C	ENSP00000495806.2:p.Gly177Arg
ENST00000155840.12:c.973G>C MANE Select	ENSP00000155840.2:p.Gly325Arg
ENST00000335475.6:c.592G>C	ENSP00000334497.5:p.Gly198Arg
ENST00000646564.1:c.175G>C	ENSP00000495806.1:p.Gly59Arg
ENST00000155840.9:c.973G>C	ENSP00000155840.2:p.Gly325Arg
ENST00000335475.5:c.592G>C	ENSP00000334497.5:p.Gly198Arg
NM_000218.2:c.973G>C , LRG_287t1:c.973G>C	NP_000209.2:p.Gly325Arg
NM_181798.1:c.592G>C , LRG_287t2:c.592G>C	NP_861463.1:p.Gly198Arg
NM_000218.3:c.973G>C MANE Select	NP_000209.2:p.Gly325Arg