Canonical Allele Identifier: CA344582880
Gene: IRF6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209796387A>G , CM000663.2:g.209796387A>G GRCh38
NC_000001.10:g.209969732A>G , CM000663.1:g.209969732A>G GRCh37
NC_000001.9:g.208036355A>G NCBI36
NG_007081.2:g.14748T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.340T>C ENSP00000512426.1:p.Cys114Arg
ENST00000696134.1:c.340T>C ENSP00000512427.1:p.Cys114Arg
ENST00000367021.8:c.340T>C MANE Select ENSP00000355988.3:p.Cys114Arg
ENST00000643798.1:c.340T>C ENSP00000496669.1:p.Cys114Arg
ENST00000367021.7:c.340T>C ENSP00000355988.3:p.Cys114Arg
ENST00000456314.1:c.340T>C ENSP00000403855.1:p.Cys114Arg
ENST00000542854.5:c.55T>C ENSP00000440532.1:p.Cys19Arg
NM_001206696.1:c.55T>C NP_001193625.1:p.Cys19Arg
NM_006147.3:c.340T>C NP_006138.1:p.Cys114Arg
NM_006147.4:c.340T>C MANE Select NP_006138.1:p.Cys114Arg
NM_001206696.2:c.55T>C NP_001193625.1:p.Cys19Arg