Canonical Allele Identifier: CA1948224679

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583452C= , CM000673.2:g.2583452C=	GRCh38
NC_000011.9:g.2604682C= , CM000673.1:g.2604682C=	GRCh37
NC_000011.8:g.2561258C=	NCBI36
NG_008935.1:g.143462C= , LRG_287:g.143462C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.678C=	ENSP00000434560.2:p.Ile226=
ENST00000646564.2:c.495C=	ENSP00000495806.2:p.Ile165=
ENST00000155840.12:c.939C= MANE Select	ENSP00000155840.2:p.Ile313=
ENST00000335475.6:c.558C=	ENSP00000334497.5:p.Ile186=
ENST00000646564.1:c.141C=	ENSP00000495806.1:p.Ile47=
ENST00000155840.9:c.939C=	ENSP00000155840.2:p.Ile313=
ENST00000335475.5:c.558C=	ENSP00000334497.5:p.Ile186=
NM_000218.2:c.939C= , LRG_287t1:c.939C=	NP_000209.2:p.Ile313=
NM_181798.1:c.558C= , LRG_287t2:c.558C=	NP_861463.1:p.Ile186=
NM_000218.3:c.939C= MANE Select	NP_000209.2:p.Ile313=