Canonical Allele Identifier: CA934471345

Gene: KCNQ1 KCNQ1OT1

Linked Data

• dbSNP Id: rs1849974674
• gnomAD v3: 11-2662321-A-ATCATTTTCCACTTGTTT
• gnomAD v4: 11-2662321-A-ATCATTTTCCACTTGTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662326_2662342dup , CM000673.2:g.2662326_2662342dup	GRCh38
NC_000011.9:g.2683556_2683572dup , CM000673.1:g.2683556_2683572dup	GRCh37
NC_000011.8:g.2640132_2640148dup	NCBI36
NG_008935.1:g.222336_222352dup , LRG_287:g.222336_222352dup
NG_016178.2:g.42661_42677dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+245_1157+261dup (KCNQ1)	ENSP00000434560.2:n.1157+245_1157+261dup
ENST00000646564.2:c.974+245_974+261dup (KCNQ1)	ENSP00000495806.2:n.974+245_974+261dup
ENST00000155840.12:c.1514+245_1514+261dup (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+245_1514+261dup
ENST00000335475.6:c.1133+245_1133+261dup (KCNQ1)	ENSP00000334497.5:n.1133+245_1133+261dup
ENST00000646564.1:c.620+245_620+261dup (KCNQ1)	ENSP00000495806.1:n.620+245_620+261dup
ENST00000155840.9:c.1514+245_1514+261dup (KCNQ1)	ENSP00000155840.2:n.1514+245_1514+261dup
ENST00000335475.5:c.1133+245_1133+261dup (KCNQ1)	ENSP00000334497.5:n.1133+245_1133+261dup
NM_000218.2:c.1514+245_1514+261dup , LRG_287t1:c.1514+245_1514+261dup (KCNQ1)	NP_000209.2:n.1514+245_1514+261dup
NM_181798.1:c.1133+245_1133+261dup , LRG_287t2:c.1133+245_1133+261dup (KCNQ1)	NP_861463.1:n.1133+245_1133+261dup
NR_002728.3:n.37661_37677dup (KCNQ1OT1)
NM_000218.3:c.1514+245_1514+261dup (KCNQ1) MANE Select	NP_000209.2:n.1514+245_1514+261dup