Canonical Allele Identifier: CA1948247578

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661979T= , CM000673.2:g.2661979T=	GRCh38
NC_000011.9:g.2683209T= , CM000673.1:g.2683209T=	GRCh37
NC_000011.8:g.2639785T=	NCBI36
NG_008935.1:g.221989T= , LRG_287:g.221989T=
NG_016178.2:g.43020A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1055T= (KCNQ1)	ENSP00000434560.2:p.Leu352=
ENST00000646564.2:c.872T= (KCNQ1)	ENSP00000495806.2:p.Leu291=
ENST00000155840.12:c.1412T= (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu471=
ENST00000335475.6:c.1031T= (KCNQ1)	ENSP00000334497.5:p.Leu344=
ENST00000646564.1:c.518T= (KCNQ1)	ENSP00000495806.1:p.Leu173=
ENST00000155840.9:c.1412T= (KCNQ1)	ENSP00000155840.2:p.Leu471=
ENST00000335475.5:c.1031T= (KCNQ1)	ENSP00000334497.5:p.Leu344=
NM_000218.2:c.1412T= , LRG_287t1:c.1412T= (KCNQ1)	NP_000209.2:p.Leu471=
NM_181798.1:c.1031T= , LRG_287t2:c.1031T= (KCNQ1)	NP_861463.1:p.Leu344=
NR_002728.3:n.38020A= (KCNQ1OT1)
NM_000218.3:c.1412T= (KCNQ1) MANE Select	NP_000209.2:p.Leu471=