Canonical Allele Identifier: CA1948310055

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768892G= , CM000673.2:g.2768892G=	GRCh38
NC_000011.9:g.2790122G= , CM000673.1:g.2790122G=	GRCh37
NC_000011.8:g.2746698G=	NCBI36
NG_008935.1:g.328902G= , LRG_287:g.328902G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1206G=	ENSP00000434560.2:p.Gln402=
ENST00000646564.2:c.1023G=	ENSP00000495806.2:p.Gln341=
ENST00000155840.12:c.1563G= MANE Select	ENSP00000155840.2:p.Gln521=
ENST00000335475.6:c.1182G=	ENSP00000334497.5:p.Gln394=
ENST00000646564.1:c.669G=	ENSP00000495806.1:p.Gln223=
ENST00000155840.9:c.1563G=	ENSP00000155840.2:p.Gln521=
ENST00000335475.5:c.1182G=	ENSP00000334497.5:p.Gln394=
NM_000218.2:c.1563G= , LRG_287t1:c.1563G=	NP_000209.2:p.Gln521=
NM_181798.1:c.1182G= , LRG_287t2:c.1182G=	NP_861463.1:p.Gln394=
NM_000218.3:c.1563G= MANE Select	NP_000209.2:p.Gln521=