Canonical Allele Identifier: CA1948228887

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585237T= , CM000673.2:g.2585237T=	GRCh38
NC_000011.9:g.2606467T= , CM000673.1:g.2606467T=	GRCh37
NC_000011.8:g.2563043T=	NCBI36
NG_008935.1:g.145247T= , LRG_287:g.145247T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1058T= MANE Select	NP_000209.2:p.Leu353=
ENST00000155840.12:c.1058T= MANE Select	ENSP00000155840.2:p.Leu353=
NM_000218.2:c.1058T= , LRG_287t1:c.1058T=	NP_000209.2:p.Leu353=
NM_181798.1:c.677T= , LRG_287t2:c.677T=	NP_861463.1:p.Leu226=
ENST00000155840.9:c.1058T=	ENSP00000155840.2:p.Leu353=
ENST00000335475.5:c.677T=	ENSP00000334497.5:p.Leu226=
ENST00000335475.6:c.677T=	ENSP00000334497.5:p.Leu226=
ENST00000496887.7:c.771+1692T=	ENSP00000434560.2:n.771+1692T=
ENST00000646564.1:c.234+1692T=	ENSP00000495806.1:n.234+1692T=
ENST00000646564.2:c.588+1692T=	ENSP00000495806.2:n.588+1692T=