Canonical Allele Identifier: CA008864

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 179935
• ClinVar RCV Id: RCV001842495 ; RCV002053891
• dbSNP Id: rs727505231
• ExAC: 11:2604691 G / C
• gnomAD v2: 11-2604691-G-C
• gnomAD v4: 11-2583461-G-C
• MyVariant Identifiers: chr11:g.2604691G>C (hg19) ; chr11:g.2583461G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583461G>C , CM000673.2:g.2583461G>C	GRCh38
NC_000011.9:g.2604691G>C , CM000673.1:g.2604691G>C	GRCh37
NC_000011.8:g.2561267G>C	NCBI36
NG_008935.1:g.143471G>C , LRG_287:g.143471G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.687G>C	ENSP00000434560.2:p.Gly229=
ENST00000646564.2:c.504G>C	ENSP00000495806.2:p.Gly168=
ENST00000155840.12:c.948G>C MANE Select	ENSP00000155840.2:p.Gly316=
ENST00000335475.6:c.567G>C	ENSP00000334497.5:p.Gly189=
ENST00000646564.1:c.150G>C	ENSP00000495806.1:p.Gly50=
ENST00000155840.9:c.948G>C	ENSP00000155840.2:p.Gly316=
ENST00000335475.5:c.567G>C	ENSP00000334497.5:p.Gly189=
NM_000218.2:c.948G>C , LRG_287t1:c.948G>C	NP_000209.2:p.Gly316=
NM_181798.1:c.567G>C , LRG_287t2:c.567G>C	NP_861463.1:p.Gly189=
NM_000218.3:c.948G>C MANE Select	NP_000209.2:p.Gly316=