Canonical Allele Identifier: CA379133026

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1449449
• ClinVar RCV Id: RCV002014518
• dbSNP Id: rs199472756
• MyVariant Identifiers: chr11:g.2604716G>T (hg19) ; chr11:g.2583486G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.712G>T	ENSP00000434560.2:p.Gly238Trp
ENST00000646564.2:c.529G>T	ENSP00000495806.2:p.Gly177Trp
ENST00000155840.12:c.973G>T MANE Select	ENSP00000155840.2:p.Gly325Trp
ENST00000335475.6:c.592G>T	ENSP00000334497.5:p.Gly198Trp
ENST00000646564.1:c.175G>T	ENSP00000495806.1:p.Gly59Trp
ENST00000155840.9:c.973G>T	ENSP00000155840.2:p.Gly325Trp
ENST00000335475.5:c.592G>T	ENSP00000334497.5:p.Gly198Trp
NM_000218.2:c.973G>T , LRG_287t1:c.973G>T	NP_000209.2:p.Gly325Trp
NM_181798.1:c.592G>T , LRG_287t2:c.592G>T	NP_861463.1:p.Gly198Trp
NM_000218.3:c.973G>T MANE Select	NP_000209.2:p.Gly325Trp