Canonical Allele Identifier: CA10609677
Gene: IRF6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.209787577A>C
GRCh37 chr1:g.209960922A>C
gnomAD v2:
1:209960922 A / C
gnomAD v3:
1:209787577 A / C
gnomAD v4:
chr1-209787577-A-C
Joint Max Group AF 0.42846091 (NFE)
Genomes Max Group AF 0.42852302 (NFE)
Exomes Max Group AF 0.30077282 (NFE)
ClinVar RCV:
RCV000318759
RCV000373362
ClinVar Variation:
295189
dbSNP:
599021
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209787577A>C , CM000663.2:g.209787577A>C GRCh38
NC_000001.10:g.209960922A>C , CM000663.1:g.209960922A>C GRCh37
NC_000001.9:g.208027545A>C NCBI36
NG_007081.2:g.23558T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1400+847T>G ENSP00000512426.1:n.1400+847T>G
ENST00000696134.1:c.*1674T>G ENSP00000512427.1:n.*1674T>G
ENST00000367021.8:c.*843T>G MANE Select ENSP00000355988.3:n.*843T>G
ENST00000367021.7:c.*843T>G ENSP00000355988.3:n.*843T>G
ENST00000542854.5:c.*843T>G ENSP00000440532.1:n.*843T>G
NM_001206696.1:c.*843T>G NP_001193625.1:n.*843T>G
NM_006147.3:c.*843T>G NP_006138.1:n.*843T>G
NM_006147.4:c.*843T>G MANE Select NP_006138.1:n.*843T>G
NM_001206696.2:c.*843T>G NP_001193625.1:n.*843T>G
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