Canonical Allele Identifier: CA1948224556

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583436T= , CM000673.2:g.2583436T=	GRCh38
NC_000011.9:g.2604666T= , CM000673.1:g.2604666T=	GRCh37
NC_000011.8:g.2561242T=	NCBI36
NG_008935.1:g.143446T= , LRG_287:g.143446T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.662T=	ENSP00000434560.2:p.Val221=
ENST00000646564.2:c.479T=	ENSP00000495806.2:p.Val160=
ENST00000155840.12:c.923T= MANE Select	ENSP00000155840.2:p.Val308=
ENST00000335475.6:c.542T=	ENSP00000334497.5:p.Val181=
ENST00000646564.1:c.125T=	ENSP00000495806.1:p.Val42=
ENST00000155840.9:c.923T=	ENSP00000155840.2:p.Val308=
ENST00000335475.5:c.542T=	ENSP00000334497.5:p.Val181=
NM_000218.2:c.923T= , LRG_287t1:c.923T=	NP_000209.2:p.Val308=
NM_181798.1:c.542T= , LRG_287t2:c.542T=	NP_861463.1:p.Val181=
NM_000218.3:c.923T= MANE Select	NP_000209.2:p.Val308=