Canonical Allele Identifier: CA1948224672

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583450A= , CM000673.2:g.2583450A=	GRCh38
NC_000011.9:g.2604680A= , CM000673.1:g.2604680A=	GRCh37
NC_000011.8:g.2561256A=	NCBI36
NG_008935.1:g.143460A= , LRG_287:g.143460A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.676A=	ENSP00000434560.2:p.Ile226=
ENST00000646564.2:c.493A=	ENSP00000495806.2:p.Ile165=
ENST00000155840.12:c.937A= MANE Select	ENSP00000155840.2:p.Ile313=
ENST00000335475.6:c.556A=	ENSP00000334497.5:p.Ile186=
ENST00000646564.1:c.139A=	ENSP00000495806.1:p.Ile47=
ENST00000155840.9:c.937A=	ENSP00000155840.2:p.Ile313=
ENST00000335475.5:c.556A=	ENSP00000334497.5:p.Ile186=
NM_000218.2:c.937A= , LRG_287t1:c.937A=	NP_000209.2:p.Ile313=
NM_181798.1:c.556A= , LRG_287t2:c.556A=	NP_861463.1:p.Ile186=
NM_000218.3:c.937A= MANE Select	NP_000209.2:p.Ile313=