Canonical Allele Identifier: CA1948239888

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570719G= , CM000673.2:g.2570719G=	GRCh38
NC_000011.9:g.2591949G= , CM000673.1:g.2591949G=	GRCh37
NC_000011.8:g.2548525G=	NCBI36
NG_008935.1:g.130729G= , LRG_287:g.130729G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.308G=	ENSP00000434560.2:p.Arg103=
ENST00000646564.2:c.478-12716G=	ENSP00000495806.2:n.478-12716G=
ENST00000155840.12:c.569G= MANE Select	ENSP00000155840.2:p.Arg190=
ENST00000335475.6:c.188G=	ENSP00000334497.5:p.Arg63=
ENST00000646564.1:c.124-12716G=	ENSP00000495806.1:n.124-12716G=
ENST00000155840.9:c.569G=	ENSP00000155840.2:p.Arg190=
ENST00000335475.5:c.188G=	ENSP00000334497.5:p.Arg63=
ENST00000496887.6:c.308G=	ENSP00000434560.1:p.Arg103=
NM_000218.2:c.569G= , LRG_287t1:c.569G=	NP_000209.2:p.Arg190=
NM_181798.1:c.188G= , LRG_287t2:c.188G=	NP_861463.1:p.Arg63=
NM_000218.3:c.569G= MANE Select	NP_000209.2:p.Arg190=