Canonical Allele Identifier: CA1948314060

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776030T= , CM000673.2:g.2776030T=	GRCh38
NC_000011.9:g.2797260T= , CM000673.1:g.2797260T=	GRCh37
NC_000011.8:g.2753836T=	NCBI36
NG_008935.1:g.336040T= , LRG_287:g.336040T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1661T= MANE Select	NP_000209.2:p.Val554=
ENST00000155840.12:c.1661T= MANE Select	ENSP00000155840.2:p.Val554=
NM_000218.2:c.1661T= , LRG_287t1:c.1661T=	NP_000209.2:p.Val554=
NM_181798.1:c.1280T= , LRG_287t2:c.1280T=	NP_861463.1:p.Val427=
ENST00000155840.9:c.1661T=	ENSP00000155840.2:p.Val554=
ENST00000335475.5:c.1280T=	ENSP00000334497.5:p.Val427=
ENST00000335475.6:c.1280T=	ENSP00000334497.5:p.Val427=
ENST00000496887.7:c.1304T=	ENSP00000434560.2:p.Val435=
ENST00000646564.1:c.767T=	ENSP00000495806.1:p.Val256=
ENST00000646564.2:c.1121T=	ENSP00000495806.2:p.Val374=