Canonical Allele Identifier: CA026945
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527094
dbSNP Id: rs764094211
gnomAD v2: 11-2606437-C-G
gnomAD v3: 11-2585207-C-G
gnomAD v4: 11-2585207-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585207C>G , CM000673.2:g.2585207C>G GRCh38
NC_000011.9:g.2606437C>G , CM000673.1:g.2606437C>G GRCh37
NC_000011.8:g.2563013C>G NCBI36
NG_008935.1:g.145217C>G , LRG_287:g.145217C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.771+1662C>G ENSP00000434560.2:n.771+1662C>G
ENST00000646564.2:c.588+1662C>G ENSP00000495806.2:n.588+1662C>G
ENST00000155840.12:c.1033-5C>G MANE Select ENSP00000155840.2:n.1033-5C>G
ENST00000335475.6:c.652-5C>G ENSP00000334497.5:n.652-5C>G
ENST00000646564.1:c.234+1662C>G ENSP00000495806.1:n.234+1662C>G
ENST00000155840.9:c.1033-5C>G ENSP00000155840.2:n.1033-5C>G
ENST00000335475.5:c.652-5C>G ENSP00000334497.5:n.652-5C>G
NM_000218.2:c.1033-5C>G , LRG_287t1:c.1033-5C>G NP_000209.2:n.1033-5C>G
NM_181798.1:c.652-5C>G , LRG_287t2:c.652-5C>G NP_861463.1:n.652-5C>G
NM_000218.3:c.1033-5C>G MANE Select NP_000209.2:n.1033-5C>G