Canonical Allele Identifier: CA1948247683

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662004C= , CM000673.2:g.2662004C=	GRCh38
NC_000011.9:g.2683234C= , CM000673.1:g.2683234C=	GRCh37
NC_000011.8:g.2639810C=	NCBI36
NG_008935.1:g.222014C= , LRG_287:g.222014C=
NG_016178.2:g.42995G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1080C= (KCNQ1)	ENSP00000434560.2:p.Phe360=
ENST00000646564.2:c.897C= (KCNQ1)	ENSP00000495806.2:p.Phe299=
ENST00000155840.12:c.1437C= (KCNQ1) MANE Select	ENSP00000155840.2:p.Phe479=
ENST00000335475.6:c.1056C= (KCNQ1)	ENSP00000334497.5:p.Phe352=
ENST00000646564.1:c.543C= (KCNQ1)	ENSP00000495806.1:p.Phe181=
ENST00000155840.9:c.1437C= (KCNQ1)	ENSP00000155840.2:p.Phe479=
ENST00000335475.5:c.1056C= (KCNQ1)	ENSP00000334497.5:p.Phe352=
NM_000218.2:c.1437C= , LRG_287t1:c.1437C= (KCNQ1)	NP_000209.2:p.Phe479=
NM_181798.1:c.1056C= , LRG_287t2:c.1056C= (KCNQ1)	NP_861463.1:p.Phe352=
NR_002728.3:n.37995G= (KCNQ1OT1)
NM_000218.3:c.1437C= (KCNQ1) MANE Select	NP_000209.2:p.Phe479=