Canonical Allele Identifier: CA10609016
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 295186
ClinVar RCV Id: RCV000364793 RCV000399930
dbSNP Id: rs58161850
gnomAD v2: 1-209960519-G-C
gnomAD v3: 1-209787174-G-C
gnomAD v4: 1-209787174-G-C
MyVariant Identifiers: chr1:g.209960519G>C (hg19) chr1:g.209787174G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209787174G>C , CM000663.2:g.209787174G>C GRCh38
NC_000001.10:g.209960519G>C , CM000663.1:g.209960519G>C GRCh37
NC_000001.9:g.208027142G>C NCBI36
NG_007081.2:g.23961C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1400+1250C>G ENSP00000512426.1:n.1400+1250C>G
ENST00000696134.1:c.*2077C>G ENSP00000512427.1:n.*2077C>G
ENST00000367021.8:c.*1246C>G MANE Select ENSP00000355988.3:n.*1246C>G
ENST00000367021.7:c.*1246C>G ENSP00000355988.3:n.*1246C>G
ENST00000542854.5:c.*1246C>G ENSP00000440532.1:n.*1246C>G
NM_001206696.1:c.*1246C>G NP_001193625.1:n.*1246C>G
NM_006147.3:c.*1246C>G NP_006138.1:n.*1246C>G
NM_006147.4:c.*1246C>G MANE Select NP_006138.1:n.*1246C>G
NM_001206696.2:c.*1246C>G NP_001193625.1:n.*1246C>G
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