Canonical Allele Identifier: CA675037559

Gene: KCNQ1 KCNQ1OT1

Linked Data

• dbSNP Id: rs1446369738
• gnomAD v3: 11-2662249-G-GGA
• gnomAD v4: 11-2662249-G-GGA
• MyVariant Identifiers: chr11:g.2683479_2683480insGA (hg19) ; chr11:g.2662249_2662250insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662253_2662254dup , CM000673.2:g.2662253_2662254dup	GRCh38
NC_000011.9:g.2683483_2683484dup , CM000673.1:g.2683483_2683484dup	GRCh37
NC_000011.8:g.2640059_2640060dup	NCBI36
NG_008935.1:g.222263_222264dup , LRG_287:g.222263_222264dup
NG_016178.2:g.42748_42749dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+172_1157+173dup (KCNQ1)	ENSP00000434560.2:n.1157+172_1157+173dup
ENST00000646564.2:c.974+172_974+173dup (KCNQ1)	ENSP00000495806.2:n.974+172_974+173dup
ENST00000155840.12:c.1514+172_1514+173dup (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+172_1514+173dup
ENST00000335475.6:c.1133+172_1133+173dup (KCNQ1)	ENSP00000334497.5:n.1133+172_1133+173dup
ENST00000646564.1:c.620+172_620+173dup (KCNQ1)	ENSP00000495806.1:n.620+172_620+173dup
ENST00000155840.9:c.1514+172_1514+173dup (KCNQ1)	ENSP00000155840.2:n.1514+172_1514+173dup
ENST00000335475.5:c.1133+172_1133+173dup (KCNQ1)	ENSP00000334497.5:n.1133+172_1133+173dup
NM_000218.2:c.1514+172_1514+173dup , LRG_287t1:c.1514+172_1514+173dup (KCNQ1)	NP_000209.2:n.1514+172_1514+173dup
NM_181798.1:c.1133+172_1133+173dup , LRG_287t2:c.1133+172_1133+173dup (KCNQ1)	NP_861463.1:n.1133+172_1133+173dup
NR_002728.3:n.37748_37749dup (KCNQ1OT1)
NM_000218.3:c.1514+172_1514+173dup (KCNQ1) MANE Select	NP_000209.2:n.1514+172_1514+173dup