Canonical Allele Identifier: CA1948315103

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778003C= , CM000673.2:g.2778003C=	GRCh38
NC_000011.9:g.2799233C= , CM000673.1:g.2799233C=	GRCh37
NC_000011.8:g.2755809C=	NCBI36
NG_008935.1:g.338013C= , LRG_287:g.338013C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1760C= MANE Select	NP_000209.2:p.Thr587=
ENST00000155840.12:c.1760C= MANE Select	ENSP00000155840.2:p.Thr587=
NM_000218.2:c.1760C= , LRG_287t1:c.1760C=	NP_000209.2:p.Thr587=
NM_181798.1:c.1379C= , LRG_287t2:c.1379C=	NP_861463.1:p.Thr460=
ENST00000155840.9:c.1760C=	ENSP00000155840.2:p.Thr587=
ENST00000335475.5:c.1379C=	ENSP00000334497.5:p.Thr460=
ENST00000335475.6:c.1379C=	ENSP00000334497.5:p.Thr460=
ENST00000496887.7:c.1403C=	ENSP00000434560.2:p.Thr468=
ENST00000526095.1:n.267C=
ENST00000526095.2:c.164C=	ENSP00000494939.1:p.Thr55=
ENST00000646564.1:c.866C=	ENSP00000495806.1:p.Thr289=
ENST00000646564.2:c.1220C=	ENSP00000495806.2:p.Thr407=