Canonical Allele Identifier: CA1948239587

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570666G= , CM000673.2:g.2570666G=	GRCh38
NC_000011.9:g.2591896G= , CM000673.1:g.2591896G=	GRCh37
NC_000011.8:g.2548472G=	NCBI36
NG_008935.1:g.130676G= , LRG_287:g.130676G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.255G=	ENSP00000434560.2:p.Val85=
ENST00000646564.2:c.478-12769G=	ENSP00000495806.2:n.478-12769G=
ENST00000155840.12:c.516G= MANE Select	ENSP00000155840.2:p.Val172=
ENST00000335475.6:c.135G=	ENSP00000334497.5:p.Val45=
ENST00000646564.1:c.124-12769G=	ENSP00000495806.1:n.124-12769G=
ENST00000155840.9:c.516G=	ENSP00000155840.2:p.Val172=
ENST00000335475.5:c.135G=	ENSP00000334497.5:p.Val45=
ENST00000496887.6:c.255G=	ENSP00000434560.1:p.Val85=
NM_000218.2:c.516G= , LRG_287t1:c.516G=	NP_000209.2:p.Val172=
NM_181798.1:c.135G= , LRG_287t2:c.135G=	NP_861463.1:p.Val45=
NM_000218.3:c.516G= MANE Select	NP_000209.2:p.Val172=