Canonical Allele Identifier: CA2612007456

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2670148-A-ACCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2670149_2670150insCTGTC , CM000673.2:g.2670149_2670150insCTGTC	GRCh38
NC_000011.9:g.2691379_2691380insCTGTC , CM000673.1:g.2691379_2691380insCTGTC	GRCh37
NC_000011.8:g.2647955_2647956insCTGTC	NCBI36
NG_008935.1:g.230159_230160insCTGTC , LRG_287:g.230159_230160insCTGTC
NG_016178.2:g.34850_34851insACAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1157+8068_1157+8069insCTGTC (KCNQ1)	ENSP00000434560.2:n.1157+8068_1157+8069in...
ENST00000646564.2:c.974+8068_974+8069insCTGTC (KCNQ1)	ENSP00000495806.2:n.974+8068_974+8069insC...
ENST00000155840.12:c.1514+8068_1514+8069insCTGTC (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+8068_1514+8069in...
ENST00000335475.6:c.1133+8068_1133+8069insCTGTC (KCNQ1)	ENSP00000334497.5:n.1133+8068_1133+8069in...
ENST00000646564.1:c.620+8068_620+8069insCTGTC (KCNQ1)	ENSP00000495806.1:n.620+8068_620+8069insC...
ENST00000155840.9:c.1514+8068_1514+8069insCTGTC (KCNQ1)	ENSP00000155840.2:n.1514+8068_1514+8069in...
ENST00000335475.5:c.1133+8068_1133+8069insCTGTC (KCNQ1)	ENSP00000334497.5:n.1133+8068_1133+8069in...
NM_000218.2:c.1514+8068_1514+8069insCTGTC , LRG_287t1:c.1514+8068_1514+8069insCTGTC (KCNQ1)	NP_000209.2:n.1514+8068_1514+8069insCTGTC...
NM_181798.1:c.1133+8068_1133+8069insCTGTC , LRG_287t2:c.1133+8068_1133+8069insCTGTC (KCNQ1)	NP_861463.1:n.1133+8068_1133+8069insCTGTC...
NR_002728.3:n.29850_29851insACAGG (KCNQ1OT1)
NM_000218.3:c.1514+8068_1514+8069insCTGTC (KCNQ1) MANE Select	NP_000209.2:n.1514+8068_1514+8069insCTGTC...