Canonical Allele Identifier: CA1948212345

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572971G= , CM000673.2:g.2572971G=	GRCh38
NC_000011.9:g.2594201G= , CM000673.1:g.2594201G=	GRCh37
NC_000011.8:g.2550777G=	NCBI36
NG_008935.1:g.132981G= , LRG_287:g.132981G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.645G=	ENSP00000434560.2:p.Ala215=
ENST00000646564.2:c.478-10464G=	ENSP00000495806.2:n.478-10464G=
ENST00000155840.12:c.906G= MANE Select	ENSP00000155840.2:p.Ala302=
ENST00000335475.6:c.525G=	ENSP00000334497.5:p.Ala175=
ENST00000646564.1:c.124-10464G=	ENSP00000495806.1:n.124-10464G=
ENST00000155840.9:c.906G=	ENSP00000155840.2:p.Ala302=
ENST00000335475.5:c.525G=	ENSP00000334497.5:p.Ala175=
NM_000218.2:c.906G= , LRG_287t1:c.906G=	NP_000209.2:p.Ala302=
NM_181798.1:c.525G= , LRG_287t2:c.525G=	NP_861463.1:p.Ala175=
NM_000218.3:c.906G= MANE Select	NP_000209.2:p.Ala302=