Canonical Allele Identifier: CA1948239392

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570643G= , CM000673.2:g.2570643G=	GRCh38
NC_000011.9:g.2591873G= , CM000673.1:g.2591873G=	GRCh37
NC_000011.8:g.2548449G=	NCBI36
NG_008935.1:g.130653G= , LRG_287:g.130653G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.232G=	ENSP00000434560.2:p.Val78=
ENST00000646564.2:c.478-12792G=	ENSP00000495806.2:n.478-12792G=
ENST00000155840.12:c.493G= MANE Select	ENSP00000155840.2:p.Val165=
ENST00000335475.6:c.112G=	ENSP00000334497.5:p.Val38=
ENST00000646564.1:c.124-12792G=	ENSP00000495806.1:n.124-12792G=
ENST00000155840.9:c.493G=	ENSP00000155840.2:p.Val165=
ENST00000335475.5:c.112G=	ENSP00000334497.5:p.Val38=
ENST00000496887.6:c.232G=	ENSP00000434560.1:p.Val78=
NM_000218.2:c.493G= , LRG_287t1:c.493G=	NP_000209.2:p.Val165=
NM_181798.1:c.112G= , LRG_287t2:c.112G=	NP_861463.1:p.Val38=
NM_000218.3:c.493G= MANE Select	NP_000209.2:p.Val165=