Canonical Allele Identifier: CA1948242642

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572030A= , CM000673.2:g.2572030A=	GRCh38
NC_000011.9:g.2593260A= , CM000673.1:g.2593260A=	GRCh37
NC_000011.8:g.2549836A=	NCBI36
NG_008935.1:g.132040A= , LRG_287:g.132040A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.440A=	ENSP00000434560.2:p.Gln147=
ENST00000646564.2:c.478-11405A=	ENSP00000495806.2:n.478-11405A=
ENST00000155840.12:c.701A= MANE Select	ENSP00000155840.2:p.Gln234=
ENST00000335475.6:c.320A=	ENSP00000334497.5:p.Gln107=
ENST00000646564.1:c.124-11405A=	ENSP00000495806.1:n.124-11405A=
ENST00000155840.9:c.701A=	ENSP00000155840.2:p.Gln234=
ENST00000335475.5:c.320A=	ENSP00000334497.5:p.Gln107=
ENST00000496887.6:c.440A=	ENSP00000434560.1:p.Gln147=
NM_000218.2:c.701A= , LRG_287t1:c.701A=	NP_000209.2:p.Gln234=
NM_181798.1:c.320A= , LRG_287t2:c.320A=	NP_861463.1:p.Gln107=
NM_000218.3:c.701A= MANE Select	NP_000209.2:p.Gln234=