Canonical Allele Identifier: CA1948248299

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662272G= , CM000673.2:g.2662272G=	GRCh38
NC_000011.9:g.2683502G= , CM000673.1:g.2683502G=	GRCh37
NC_000011.8:g.2640078G=	NCBI36
NG_008935.1:g.222282G= , LRG_287:g.222282G=
NG_016178.2:g.42727C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+191G= (KCNQ1)	ENSP00000434560.2:n.1157+191G=
ENST00000646564.2:c.974+191G= (KCNQ1)	ENSP00000495806.2:n.974+191G=
ENST00000155840.12:c.1514+191G= (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+191G=
ENST00000335475.6:c.1133+191G= (KCNQ1)	ENSP00000334497.5:n.1133+191G=
ENST00000646564.1:c.620+191G= (KCNQ1)	ENSP00000495806.1:n.620+191G=
ENST00000155840.9:c.1514+191G= (KCNQ1)	ENSP00000155840.2:n.1514+191G=
ENST00000335475.5:c.1133+191G= (KCNQ1)	ENSP00000334497.5:n.1133+191G=
NM_000218.2:c.1514+191G= , LRG_287t1:c.1514+191G= (KCNQ1)	NP_000209.2:n.1514+191G=
NM_181798.1:c.1133+191G= , LRG_287t2:c.1133+191G= (KCNQ1)	NP_861463.1:n.1133+191G=
NR_002728.3:n.37727C= (KCNQ1OT1)
NM_000218.3:c.1514+191G= (KCNQ1) MANE Select	NP_000209.2:n.1514+191G=