Canonical Allele Identifier: CA1948247734

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662013C= , CM000673.2:g.2662013C=	GRCh38
NC_000011.9:g.2683243C= , CM000673.1:g.2683243C=	GRCh37
NC_000011.8:g.2639819C=	NCBI36
NG_008935.1:g.222023C= , LRG_287:g.222023C=
NG_016178.2:g.42986G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1089C= (KCNQ1)	ENSP00000434560.2:p.Thr363=
ENST00000646564.2:c.906C= (KCNQ1)	ENSP00000495806.2:p.Thr302=
ENST00000155840.12:c.1446C= (KCNQ1) MANE Select	ENSP00000155840.2:p.Thr482=
ENST00000335475.6:c.1065C= (KCNQ1)	ENSP00000334497.5:p.Thr355=
ENST00000646564.1:c.552C= (KCNQ1)	ENSP00000495806.1:p.Thr184=
ENST00000155840.9:c.1446C= (KCNQ1)	ENSP00000155840.2:p.Thr482=
ENST00000335475.5:c.1065C= (KCNQ1)	ENSP00000334497.5:p.Thr355=
NM_000218.2:c.1446C= , LRG_287t1:c.1446C= (KCNQ1)	NP_000209.2:p.Thr482=
NM_181798.1:c.1065C= , LRG_287t2:c.1065C= (KCNQ1)	NP_861463.1:p.Thr355=
NR_002728.3:n.37986G= (KCNQ1OT1)
NM_000218.3:c.1446C= (KCNQ1) MANE Select	NP_000209.2:p.Thr482=