Canonical Allele Identifier: CA10609029
Gene: IRF6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.209802041A>G
GRCh37 chr1:g.209975386A>G
gnomAD v2:
1:209975386 A / G
gnomAD v3:
1:209802041 A / G
gnomAD v4:
chr1-209802041-A-G
Joint Max Group AF 0.49962621 (AFR)
Genomes Max Group AF 0.4996022 (AFR)
Exomes Max Group AF 0.31104785 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209802041A>G , CM000663.2:g.209802041A>G GRCh38
NC_000001.10:g.209975386A>G , CM000663.1:g.209975386A>G GRCh37
NC_000001.9:g.208042009A>G NCBI36
NG_007081.2:g.9094T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.-73T>C ENSP00000512426.1:n.-73T>C
ENST00000696134.1:c.-73T>C ENSP00000512427.1:n.-73T>C
ENST00000367021.8:c.-73T>C MANE Select ENSP00000355988.3:n.-73T>C
ENST00000643798.1:c.-73T>C ENSP00000496669.1:n.-73T>C
ENST00000367021.7:c.-73T>C ENSP00000355988.3:n.-73T>C
ENST00000456314.1:c.-73T>C ENSP00000403855.1:n.-73T>C
ENST00000542854.5:c.-112+3906T>C ENSP00000440532.1:n.-112+3906T>C
NM_001206696.1:c.-112+3906T>C NP_001193625.1:n.-112+3906T>C
NM_006147.3:c.-73T>C NP_006138.1:n.-73T>C
NM_006147.4:c.-73T>C MANE Select NP_006138.1:n.-73T>C
NM_001206696.2:c.-112+3906T>C NP_001193625.1:n.-112+3906T>C
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