Canonical Allele Identifier: CA1948248327

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662293T= , CM000673.2:g.2662293T=	GRCh38
NC_000011.9:g.2683523T= , CM000673.1:g.2683523T=	GRCh37
NC_000011.8:g.2640099T=	NCBI36
NG_008935.1:g.222303T= , LRG_287:g.222303T=
NG_016178.2:g.42706A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+212T= (KCNQ1)	ENSP00000434560.2:n.1157+212T=
ENST00000646564.2:c.974+212T= (KCNQ1)	ENSP00000495806.2:n.974+212T=
ENST00000155840.12:c.1514+212T= (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+212T=
ENST00000335475.6:c.1133+212T= (KCNQ1)	ENSP00000334497.5:n.1133+212T=
ENST00000646564.1:c.620+212T= (KCNQ1)	ENSP00000495806.1:n.620+212T=
ENST00000155840.9:c.1514+212T= (KCNQ1)	ENSP00000155840.2:n.1514+212T=
ENST00000335475.5:c.1133+212T= (KCNQ1)	ENSP00000334497.5:n.1133+212T=
NM_000218.2:c.1514+212T= , LRG_287t1:c.1514+212T= (KCNQ1)	NP_000209.2:n.1514+212T=
NM_181798.1:c.1133+212T= , LRG_287t2:c.1133+212T= (KCNQ1)	NP_861463.1:n.1133+212T=
NR_002728.3:n.37706A= (KCNQ1OT1)
NM_000218.3:c.1514+212T= (KCNQ1) MANE Select	NP_000209.2:n.1514+212T=