Canonical Allele Identifier: CA379132983

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2130527
• ClinVar RCV Id: RCV003044588
• MyVariant Identifiers: chr11:g.2604690G>C (hg19) ; chr11:g.2583460G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583460G>C , CM000673.2:g.2583460G>C	GRCh38
NC_000011.9:g.2604690G>C , CM000673.1:g.2604690G>C	GRCh37
NC_000011.8:g.2561266G>C	NCBI36
NG_008935.1:g.143470G>C , LRG_287:g.143470G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.686G>C	ENSP00000434560.2:p.Gly229Ala
ENST00000646564.2:c.503G>C	ENSP00000495806.2:p.Gly168Ala
ENST00000155840.12:c.947G>C MANE Select	ENSP00000155840.2:p.Gly316Ala
ENST00000335475.6:c.566G>C	ENSP00000334497.5:p.Gly189Ala
ENST00000646564.1:c.149G>C	ENSP00000495806.1:p.Gly50Ala
ENST00000155840.9:c.947G>C	ENSP00000155840.2:p.Gly316Ala
ENST00000335475.5:c.566G>C	ENSP00000334497.5:p.Gly189Ala
NM_000218.2:c.947G>C , LRG_287t1:c.947G>C	NP_000209.2:p.Gly316Ala
NM_181798.1:c.566G>C , LRG_287t2:c.566G>C	NP_861463.1:p.Gly189Ala
NM_000218.3:c.947G>C MANE Select	NP_000209.2:p.Gly316Ala