Canonical Allele Identifier: CA344582820
Gene: IRF6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.209796375G>C
GRCh37 chr1:g.209969720G>C
Revel Score:
ENST00000367021 (MANE Select) 0.468
ENST00000542854 0.468
ENST00000456314 0.468
gnomAD v3:
1:209796375 G / C
gnomAD v4:
chr1-209796375-G-C
Joint Max Group AF 0.00000124 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209796375G>C , CM000663.2:g.209796375G>C GRCh38
NC_000001.10:g.209969720G>C , CM000663.1:g.209969720G>C GRCh37
NC_000001.9:g.208036343G>C NCBI36
NG_007081.2:g.14760C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.352C>G ENSP00000512426.1:p.Gln118Glu
ENST00000696134.1:c.352C>G ENSP00000512427.1:p.Gln118Glu
ENST00000367021.8:c.352C>G MANE Select ENSP00000355988.3:p.Gln118Glu
ENST00000643798.1:c.352C>G ENSP00000496669.1:p.Gln118Glu
ENST00000367021.7:c.352C>G ENSP00000355988.3:p.Gln118Glu
ENST00000456314.1:c.352C>G ENSP00000403855.1:p.Gln118Glu
ENST00000542854.5:c.67C>G ENSP00000440532.1:p.Gln23Glu
NM_001206696.1:c.67C>G NP_001193625.1:p.Gln23Glu
NM_006147.3:c.352C>G NP_006138.1:p.Gln118Glu
NM_006147.4:c.352C>G MANE Select NP_006138.1:p.Gln118Glu
NM_001206696.2:c.67C>G NP_001193625.1:p.Gln23Glu
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