Canonical Allele Identifier: CA675032887

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1333494675
• gnomAD v3: 11-2589095-G-GGGGT
• gnomAD v4: 11-2589095-G-GGGGT
• MyVariant Identifiers: chr11:g.2610325_2610326insGGGT (hg19) ; chr11:g.2589095_2589096insGGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2589100_2589103dup , CM000673.2:g.2589100_2589103dup	GRCh38
NC_000011.9:g.2610330_2610333dup , CM000673.1:g.2610330_2610333dup	GRCh37
NC_000011.8:g.2566906_2566909dup	NCBI36
NG_008935.1:g.149110_149113dup , LRG_287:g.149110_149113dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1036+246_1036+249dup	ENSP00000434560.2:n.1036+246_1036+249dup
ENST00000646564.2:c.853+246_853+249dup	ENSP00000495806.2:n.853+246_853+249dup
ENST00000155840.12:c.1393+246_1393+249dup MANE Select	ENSP00000155840.2:n.1393+246_1393+249dup
ENST00000335475.6:c.1012+246_1012+249dup	ENSP00000334497.5:n.1012+246_1012+249dup
ENST00000646564.1:c.499+246_499+249dup	ENSP00000495806.1:n.499+246_499+249dup
ENST00000155840.9:c.1393+246_1393+249dup	ENSP00000155840.2:n.1393+246_1393+249dup
ENST00000335475.5:c.1012+246_1012+249dup	ENSP00000334497.5:n.1012+246_1012+249dup
NM_000218.2:c.1393+246_1393+249dup , LRG_287t1:c.1393+246_1393+249dup	NP_000209.2:n.1393+246_1393+249dup
NM_181798.1:c.1012+246_1012+249dup , LRG_287t2:c.1012+246_1012+249dup	NP_861463.1:n.1012+246_1012+249dup
NM_000218.3:c.1393+246_1393+249dup MANE Select	NP_000209.2:n.1393+246_1393+249dup