Canonical Allele Identifier: CA16619306
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418272
dbSNP Id: rs914460959
gnomAD v2: 11-2549208-A-G
gnomAD v3: 11-2527978-A-G
gnomAD v4: 11-2527978-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527978A>G , CM000673.2:g.2527978A>G GRCh38
NC_000011.9:g.2549208A>G , CM000673.1:g.2549208A>G GRCh37
NC_000011.8:g.2505784A>G NCBI36
NG_008935.1:g.87988A>G , LRG_287:g.87988A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.176A>G ENSP00000434560.2:p.Glu59Gly
ENST00000646564.2:c.437A>G ENSP00000495806.2:p.Glu146Gly
ENST00000155840.12:c.437A>G MANE Select ENSP00000155840.2:p.Glu146Gly
ENST00000335475.6:c.56A>G ENSP00000334497.5:p.Glu19Gly
ENST00000646564.1:c.83A>G ENSP00000495806.1:p.Glu28Gly
ENST00000155840.9:c.437A>G ENSP00000155840.2:p.Glu146Gly
ENST00000335475.5:c.56A>G ENSP00000334497.5:p.Glu19Gly
ENST00000496887.6:c.176A>G ENSP00000434560.1:p.Glu59Gly
NM_000218.2:c.437A>G , LRG_287t1:c.437A>G NP_000209.2:p.Glu146Gly
NM_181798.1:c.56A>G , LRG_287t2:c.56A>G NP_861463.1:p.Glu19Gly
NM_000218.3:c.437A>G MANE Select NP_000209.2:p.Glu146Gly