Canonical Allele Identifier: CA008690
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200825
dbSNP Id: rs794728515
gnomAD v4: 11-2583432-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583432C>A , CM000673.2:g.2583432C>A GRCh38
NC_000011.9:g.2604662C>A , CM000673.1:g.2604662C>A GRCh37
NC_000011.8:g.2561238C>A NCBI36
NG_008935.1:g.143442C>A , LRG_287:g.143442C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.661-3C>A ENSP00000434560.2:n.661-3C>A
ENST00000646564.2:c.478-3C>A ENSP00000495806.2:n.478-3C>A
ENST00000155840.12:c.922-3C>A MANE Select ENSP00000155840.2:n.922-3C>A
ENST00000335475.6:c.541-3C>A ENSP00000334497.5:n.541-3C>A
ENST00000646564.1:c.124-3C>A ENSP00000495806.1:n.124-3C>A
ENST00000155840.9:c.922-3C>A ENSP00000155840.2:n.922-3C>A
ENST00000335475.5:c.541-3C>A ENSP00000334497.5:n.541-3C>A
NM_000218.2:c.922-3C>A , LRG_287t1:c.922-3C>A NP_000209.2:n.922-3C>A
NM_181798.1:c.541-3C>A , LRG_287t2:c.541-3C>A NP_861463.1:n.541-3C>A
NM_000218.3:c.922-3C>A MANE Select NP_000209.2:n.922-3C>A