Canonical Allele Identifier: CA1377269
Gene: IRF6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.209792242G>T
GRCh37 chr1:g.209965587G>T
gnomAD v2:
1:209965587 G / T
gnomAD v3:
1:209792242 G / T
gnomAD v4:
chr1-209792242-G-T
Joint Max Group AF 0.00186375 (AMR)
Genomes Max Group AF 0.00012879 (AMR)
Exomes Max Group AF 0.00239668 (AMR)
dbSNP:
2235375
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209792242G>T , CM000663.2:g.209792242G>T GRCh38
NC_000001.10:g.209965587G>T , CM000663.1:g.209965587G>T GRCh37
NC_000001.9:g.208032210G>T NCBI36
NG_007081.2:g.18893C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.667+27C>A ENSP00000512426.1:n.667+27C>A
ENST00000696134.1:c.667+27C>A ENSP00000512427.1:n.667+27C>A
ENST00000367021.8:c.667+27C>A MANE Select ENSP00000355988.3:n.667+27C>A
ENST00000643798.1:c.*177+27C>A ENSP00000496669.1:n.*177+27C>A
ENST00000367021.7:c.667+27C>A ENSP00000355988.3:n.667+27C>A
ENST00000456314.1:c.667+27C>A ENSP00000403855.1:n.667+27C>A
ENST00000464698.1:n.446+27C>A
ENST00000542854.5:c.382+27C>A ENSP00000440532.1:n.382+27C>A
NM_001206696.1:c.382+27C>A NP_001193625.1:n.382+27C>A
NM_006147.3:c.667+27C>A NP_006138.1:n.667+27C>A
NM_006147.4:c.667+27C>A MANE Select NP_006138.1:n.667+27C>A
NM_001206696.2:c.382+27C>A NP_001193625.1:n.382+27C>A
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