Canonical Allele Identifier: CA1140496143
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209788626G= , CM000663.2:g.209788626G= GRCh38
NC_000001.10:g.209961971G= , CM000663.1:g.209961971G= GRCh37
NC_000001.9:g.208028594G= NCBI36
NG_007081.2:g.22509C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1198C= ENSP00000512426.1:p.Arg400=
ENST00000696134.1:c.*625C= ENSP00000512427.1:n.*625C=
ENST00000367021.8:c.1198C= MANE Select ENSP00000355988.3:p.Arg400=
ENST00000643798.1:c.*708C= ENSP00000496669.1:n.*708C=
ENST00000367021.7:c.1198C= ENSP00000355988.3:p.Arg400=
ENST00000542854.5:c.913C= ENSP00000440532.1:p.Arg305=
NM_001206696.1:c.913C= NP_001193625.1:p.Arg305=
NM_006147.3:c.1198C= NP_006138.1:p.Arg400=
NM_006147.4:c.1198C= MANE Select NP_006138.1:p.Arg400=
NM_001206696.2:c.913C= NP_001193625.1:p.Arg305=