Canonical Allele Identifier: CA1948236316

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588838C= , CM000673.2:g.2588838C=	GRCh38
NC_000011.9:g.2610068C= , CM000673.1:g.2610068C=	GRCh37
NC_000011.8:g.2566644C=	NCBI36
NG_008935.1:g.148848C= , LRG_287:g.148848C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1020C=	ENSP00000434560.2:p.Asp340=
ENST00000646564.2:c.837C=	ENSP00000495806.2:p.Asp279=
ENST00000155840.12:c.1377C= MANE Select	ENSP00000155840.2:p.Asp459=
ENST00000335475.6:c.996C=	ENSP00000334497.5:p.Asp332=
ENST00000646564.1:c.483C=	ENSP00000495806.1:p.Asp161=
ENST00000155840.9:c.1377C=	ENSP00000155840.2:p.Asp459=
ENST00000335475.5:c.996C=	ENSP00000334497.5:p.Asp332=
NM_000218.2:c.1377C= , LRG_287t1:c.1377C=	NP_000209.2:p.Asp459=
NM_181798.1:c.996C= , LRG_287t2:c.996C=	NP_861463.1:p.Asp332=
NM_000218.3:c.1377C= MANE Select	NP_000209.2:p.Asp459=