Canonical Allele Identifier: CA1948247809

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662034G= , CM000673.2:g.2662034G=	GRCh38
NC_000011.9:g.2683264G= , CM000673.1:g.2683264G=	GRCh37
NC_000011.8:g.2639840G=	NCBI36
NG_008935.1:g.222044G= , LRG_287:g.222044G=
NG_016178.2:g.42965C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1110G= (KCNQ1)	ENSP00000434560.2:p.Leu370=
ENST00000646564.2:c.927G= (KCNQ1)	ENSP00000495806.2:p.Leu309=
ENST00000155840.12:c.1467G= (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu489=
ENST00000335475.6:c.1086G= (KCNQ1)	ENSP00000334497.5:p.Leu362=
ENST00000646564.1:c.573G= (KCNQ1)	ENSP00000495806.1:p.Leu191=
ENST00000155840.9:c.1467G= (KCNQ1)	ENSP00000155840.2:p.Leu489=
ENST00000335475.5:c.1086G= (KCNQ1)	ENSP00000334497.5:p.Leu362=
NM_000218.2:c.1467G= , LRG_287t1:c.1467G= (KCNQ1)	NP_000209.2:p.Leu489=
NM_181798.1:c.1086G= , LRG_287t2:c.1086G= (KCNQ1)	NP_861463.1:p.Leu362=
NR_002728.3:n.37965C= (KCNQ1OT1)
NM_000218.3:c.1467G= (KCNQ1) MANE Select	NP_000209.2:p.Leu489=