Canonical Allele Identifier: CA472037876

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2453282
• ClinVar RCV Id: RCV003182737
• gnomAD v3: 11-2570717-G-C
• gnomAD v4: 11-2570717-G-C
• MyVariant Identifiers: chr11:g.2591947G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570717G>C , CM000673.2:g.2570717G>C	GRCh38
NC_000011.9:g.2591947G>C , CM000673.1:g.2591947G>C	GRCh37
NC_000011.8:g.2548523G>C	NCBI36
NG_008935.1:g.130727G>C , LRG_287:g.130727G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.306G>C	ENSP00000434560.2:p.Gly102=
ENST00000646564.2:c.478-12718G>C	ENSP00000495806.2:n.478-12718G>C
ENST00000155840.12:c.567G>C MANE Select	ENSP00000155840.2:p.Gly189=
ENST00000335475.6:c.186G>C	ENSP00000334497.5:p.Gly62=
ENST00000646564.1:c.124-12718G>C	ENSP00000495806.1:n.124-12718G>C
ENST00000155840.9:c.567G>C	ENSP00000155840.2:p.Gly189=
ENST00000335475.5:c.186G>C	ENSP00000334497.5:p.Gly62=
ENST00000496887.6:c.306G>C	ENSP00000434560.1:p.Gly102=
NM_000218.2:c.567G>C , LRG_287t1:c.567G>C	NP_000209.2:p.Gly189=
NM_181798.1:c.186G>C , LRG_287t2:c.186G>C	NP_861463.1:p.Gly62=
NM_000218.3:c.567G>C MANE Select	NP_000209.2:p.Gly189=