Canonical Allele Identifier: CA379122213

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2916870
• ClinVar RCV Id: RCV003649091
• gnomAD v4: 11-2528015-G-C
• MyVariant Identifiers: chr11:g.2549245G>C (hg19) ; chr11:g.2528015G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528015G>C , CM000673.2:g.2528015G>C	GRCh38
NC_000011.9:g.2549245G>C , CM000673.1:g.2549245G>C	GRCh37
NC_000011.8:g.2505821G>C	NCBI36
NG_008935.1:g.88025G>C , LRG_287:g.88025G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.213G>C	ENSP00000434560.2:p.Trp71Cys
ENST00000646564.2:c.474G>C	ENSP00000495806.2:p.Trp158Cys
ENST00000155840.12:c.474G>C MANE Select	ENSP00000155840.2:p.Trp158Cys
ENST00000335475.6:c.93G>C	ENSP00000334497.5:p.Trp31Cys
ENST00000646564.1:c.120G>C	ENSP00000495806.1:p.Trp40Cys
ENST00000155840.9:c.474G>C	ENSP00000155840.2:p.Trp158Cys
ENST00000335475.5:c.93G>C	ENSP00000334497.5:p.Trp31Cys
ENST00000496887.6:c.213G>C	ENSP00000434560.1:p.Trp71Cys
NM_000218.2:c.474G>C , LRG_287t1:c.474G>C	NP_000209.2:p.Trp158Cys
NM_181798.1:c.93G>C , LRG_287t2:c.93G>C	NP_861463.1:p.Trp31Cys
NM_000218.3:c.474G>C MANE Select	NP_000209.2:p.Trp158Cys