Canonical Allele Identifier: CA1948196757

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527961C= , CM000673.2:g.2527961C=	GRCh38
NC_000011.9:g.2549191C= , CM000673.1:g.2549191C=	GRCh37
NC_000011.8:g.2505767C=	NCBI36
NG_008935.1:g.87971C= , LRG_287:g.87971C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.217C=
ENST00000496887.7:c.159C=	ENSP00000434560.2:p.Ser53=
ENST00000646564.2:c.420C=	ENSP00000495806.2:p.Ser140=
ENST00000155840.12:c.420C= MANE Select	ENSP00000155840.2:p.Ser140=
ENST00000335475.6:c.39C=	ENSP00000334497.5:p.Ser13=
ENST00000646564.1:c.66C=	ENSP00000495806.1:p.Ser22=
ENST00000155840.9:c.420C=	ENSP00000155840.2:p.Ser140=
ENST00000335475.5:c.39C=	ENSP00000334497.5:p.Ser13=
ENST00000345015.4:n.289C=
ENST00000380776.4:c.210C=	ENSP00000370153.4:p.Ser70=
ENST00000496887.6:c.159C=	ENSP00000434560.1:p.Ser53=
NM_000218.2:c.420C= , LRG_287t1:c.420C=	NP_000209.2:p.Ser140=
NM_181798.1:c.39C= , LRG_287t2:c.39C=	NP_861463.1:p.Ser13=
NM_000218.3:c.420C= MANE Select	NP_000209.2:p.Ser140=