Canonical Allele Identifier: CA1948242728

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572079C= , CM000673.2:g.2572079C=	GRCh38
NC_000011.9:g.2593309C= , CM000673.1:g.2593309C=	GRCh37
NC_000011.8:g.2549885C=	NCBI36
NG_008935.1:g.132089C= , LRG_287:g.132089C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.489C=	ENSP00000434560.2:p.Leu163=
ENST00000646564.2:c.478-11356C=	ENSP00000495806.2:n.478-11356C=
ENST00000155840.12:c.750C= MANE Select	ENSP00000155840.2:p.Leu250=
ENST00000335475.6:c.369C=	ENSP00000334497.5:p.Leu123=
ENST00000646564.1:c.124-11356C=	ENSP00000495806.1:n.124-11356C=
ENST00000155840.9:c.750C=	ENSP00000155840.2:p.Leu250=
ENST00000335475.5:c.369C=	ENSP00000334497.5:p.Leu123=
ENST00000496887.6:c.489C=	ENSP00000434560.1:p.Leu163=
NM_000218.2:c.750C= , LRG_287t1:c.750C=	NP_000209.2:p.Leu250=
NM_181798.1:c.369C= , LRG_287t2:c.369C=	NP_861463.1:p.Leu123=
NM_000218.3:c.750C= MANE Select	NP_000209.2:p.Leu250=