Canonical Allele Identifier: CA1948225134

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583537C= , CM000673.2:g.2583537C=	GRCh38
NC_000011.9:g.2604767C= , CM000673.1:g.2604767C=	GRCh37
NC_000011.8:g.2561343C=	NCBI36
NG_008935.1:g.143547C= , LRG_287:g.143547C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.763C=	ENSP00000434560.2:p.Leu255=
ENST00000646564.2:c.580C=	ENSP00000495806.2:p.Leu194=
ENST00000155840.12:c.1024C= MANE Select	ENSP00000155840.2:p.Leu342=
ENST00000335475.6:c.643C=	ENSP00000334497.5:p.Leu215=
ENST00000646564.1:c.226C=	ENSP00000495806.1:p.Leu76=
ENST00000155840.9:c.1024C=	ENSP00000155840.2:p.Leu342=
ENST00000335475.5:c.643C=	ENSP00000334497.5:p.Leu215=
NM_000218.2:c.1024C= , LRG_287t1:c.1024C=	NP_000209.2:p.Leu342=
NM_181798.1:c.643C= , LRG_287t2:c.643C=	NP_861463.1:p.Leu215=
NM_000218.3:c.1024C= MANE Select	NP_000209.2:p.Leu342=