Canonical Allele Identifier: CA2484364767
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209788444C= , CM000663.2:g.209788444C= GRCh38
NC_000001.10:g.209961789C= , CM000663.1:g.209961789C= GRCh37
NC_000001.9:g.208028412C= NCBI36
NG_007081.2:g.22691G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1380G= ENSP00000512426.1:p.Leu460=
ENST00000696134.1:c.*807G= ENSP00000512427.1:n.*807G=
ENST00000367021.8:c.1380G= MANE Select ENSP00000355988.3:p.Leu460=
ENST00000643798.1:c.*890G= ENSP00000496669.1:n.*890G=
ENST00000367021.7:c.1380G= ENSP00000355988.3:p.Leu460=
ENST00000542854.5:c.1095G= ENSP00000440532.1:p.Leu365=
NM_001206696.1:c.1095G= NP_001193625.1:p.Leu365=
NM_006147.3:c.1380G= NP_006138.1:p.Leu460=
NM_006147.4:c.1380G= MANE Select NP_006138.1:p.Leu460=
NM_001206696.2:c.1095G= NP_001193625.1:p.Leu365=