Canonical Allele Identifier: CA006810
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53035
dbSNP Id: rs199472678
gnomAD v2: 11-2466660-A-G
gnomAD v4: 11-2445430-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445430A>G , CM000673.2:g.2445430A>G GRCh38
NC_000011.9:g.2466660A>G , CM000673.1:g.2466660A>G GRCh37
NC_000011.8:g.2423236A>G NCBI36
NG_008935.1:g.5440A>G , LRG_287:g.5440A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.71A>G ENSP00000434560.2:p.Tyr24Cys
ENST00000646564.2:c.332A>G ENSP00000495806.2:p.Tyr111Cys
ENST00000155840.12:c.332A>G MANE Select ENSP00000155840.2:p.Tyr111Cys
ENST00000155840.9:c.332A>G ENSP00000155840.2:p.Tyr111Cys
ENST00000345015.4:n.109A>G
ENST00000496887.6:c.71A>G ENSP00000434560.1:p.Tyr24Cys
NM_000218.2:c.332A>G , LRG_287t1:c.332A>G NP_000209.2:p.Tyr111Cys
NM_000218.3:c.332A>G MANE Select NP_000209.2:p.Tyr111Cys