Canonical Allele Identifier: CA934464406

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1028573961
• gnomAD v3: 11-2589114-C-G
• gnomAD v4: 11-2589114-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2589114C>G , CM000673.2:g.2589114C>G	GRCh38
NC_000011.9:g.2610344C>G , CM000673.1:g.2610344C>G	GRCh37
NC_000011.8:g.2566920C>G	NCBI36
NG_008935.1:g.149124C>G , LRG_287:g.149124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1036+260C>G	ENSP00000434560.2:n.1036+260C>G
ENST00000646564.2:c.853+260C>G	ENSP00000495806.2:n.853+260C>G
ENST00000155840.12:c.1393+260C>G MANE Select	ENSP00000155840.2:n.1393+260C>G
ENST00000335475.6:c.1012+260C>G	ENSP00000334497.5:n.1012+260C>G
ENST00000646564.1:c.499+260C>G	ENSP00000495806.1:n.499+260C>G
ENST00000155840.9:c.1393+260C>G	ENSP00000155840.2:n.1393+260C>G
ENST00000335475.5:c.1012+260C>G	ENSP00000334497.5:n.1012+260C>G
NM_000218.2:c.1393+260C>G , LRG_287t1:c.1393+260C>G	NP_000209.2:n.1393+260C>G
NM_181798.1:c.1012+260C>G , LRG_287t2:c.1012+260C>G	NP_861463.1:n.1012+260C>G
NM_000218.3:c.1393+260C>G MANE Select	NP_000209.2:n.1393+260C>G