Canonical Allele Identifier: CA379139233

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2797275T>A (hg19) ; chr11:g.2776045T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776045T>A , CM000673.2:g.2776045T>A	GRCh38
NC_000011.9:g.2797275T>A , CM000673.1:g.2797275T>A	GRCh37
NC_000011.8:g.2753851T>A	NCBI36
NG_008935.1:g.336055T>A , LRG_287:g.336055T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1319T>A	ENSP00000434560.2:p.Leu440Gln
ENST00000646564.2:c.1136T>A	ENSP00000495806.2:p.Leu379Gln
ENST00000155840.12:c.1676T>A MANE Select	ENSP00000155840.2:p.Leu559Gln
ENST00000335475.6:c.1295T>A	ENSP00000334497.5:p.Leu432Gln
ENST00000646564.1:c.782T>A	ENSP00000495806.1:p.Leu261Gln
ENST00000155840.9:c.1676T>A	ENSP00000155840.2:p.Leu559Gln
ENST00000335475.5:c.1295T>A	ENSP00000334497.5:p.Leu432Gln
NM_000218.2:c.1676T>A , LRG_287t1:c.1676T>A	NP_000209.2:p.Leu559Gln
NM_181798.1:c.1295T>A , LRG_287t2:c.1295T>A	NP_861463.1:p.Leu432Gln
NM_000218.3:c.1676T>A MANE Select	NP_000209.2:p.Leu559Gln