Canonical Allele Identifier: CA1139923113
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209790735C= , CM000663.2:g.209790735C= GRCh38
NC_000001.10:g.209964080C= , CM000663.1:g.209964080C= GRCh37
NC_000001.9:g.208030703C= NCBI36
NG_007081.2:g.20400G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.820G= ENSP00000512426.1:p.Val274=
ENST00000696134.1:c.*247G= ENSP00000512427.1:n.*247G=
ENST00000367021.8:c.820G= MANE Select ENSP00000355988.3:p.Val274=
ENST00000643798.1:c.*330G= ENSP00000496669.1:n.*330G=
ENST00000367021.7:c.820G= ENSP00000355988.3:p.Val274=
ENST00000456314.1:c.820G= ENSP00000403855.1:p.Val274=
ENST00000542854.5:c.535G= ENSP00000440532.1:p.Val179=
NM_001206696.1:c.535G= NP_001193625.1:p.Val179=
NM_006147.3:c.820G= NP_006138.1:p.Val274=
NM_006147.4:c.820G= MANE Select NP_006138.1:p.Val274=
NM_001206696.2:c.535G= NP_001193625.1:p.Val179=