Canonical Allele Identifier: CA1948239994

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570730G= , CM000673.2:g.2570730G=	GRCh38
NC_000011.9:g.2591960G= , CM000673.1:g.2591960G=	GRCh37
NC_000011.8:g.2548536G=	NCBI36
NG_008935.1:g.130740G= , LRG_287:g.130740G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.580G= MANE Select	NP_000209.2:p.Ala194=
ENST00000155840.12:c.580G= MANE Select	ENSP00000155840.2:p.Ala194=
NM_000218.2:c.580G= , LRG_287t1:c.580G=	NP_000209.2:p.Ala194=
NM_181798.1:c.199G= , LRG_287t2:c.199G=	NP_861463.1:p.Ala67=
ENST00000155840.9:c.580G=	ENSP00000155840.2:p.Ala194=
ENST00000335475.5:c.199G=	ENSP00000334497.5:p.Ala67=
ENST00000335475.6:c.199G=	ENSP00000334497.5:p.Ala67=
ENST00000496887.6:c.319G=	ENSP00000434560.1:p.Ala107=
ENST00000496887.7:c.319G=	ENSP00000434560.2:p.Ala107=
ENST00000646564.1:c.124-12705G=	ENSP00000495806.1:n.124-12705G=
ENST00000646564.2:c.478-12705G=	ENSP00000495806.2:n.478-12705G=