Canonical Allele Identifier: CA1948243174

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572862T= , CM000673.2:g.2572862T=	GRCh38
NC_000011.9:g.2594092T= , CM000673.1:g.2594092T=	GRCh37
NC_000011.8:g.2550668T=	NCBI36
NG_008935.1:g.132872T= , LRG_287:g.132872T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.536T=	ENSP00000434560.2:p.Leu179=
ENST00000646564.2:c.478-10573T=	ENSP00000495806.2:n.478-10573T=
ENST00000155840.12:c.797T= MANE Select	ENSP00000155840.2:p.Leu266=
ENST00000335475.6:c.416T=	ENSP00000334497.5:p.Leu139=
ENST00000646564.1:c.124-10573T=	ENSP00000495806.1:n.124-10573T=
ENST00000155840.9:c.797T=	ENSP00000155840.2:p.Leu266=
ENST00000335475.5:c.416T=	ENSP00000334497.5:p.Leu139=
ENST00000496887.6:c.536T=	ENSP00000434560.1:p.Leu179=
NM_000218.2:c.797T= , LRG_287t1:c.797T=	NP_000209.2:p.Leu266=
NM_181798.1:c.416T= , LRG_287t2:c.416T=	NP_861463.1:p.Leu139=
NM_000218.3:c.797T= MANE Select	NP_000209.2:p.Leu266=