Canonical Allele Identifier: CA1141581363
Community Standard Title: NM_006147.4(IRF6):c.1186C= (p.Pro396=)
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209788638G= , CM000663.2:g.209788638G= GRCh38
NC_000001.10:g.209961983G= , CM000663.1:g.209961983G= GRCh37
NC_000001.9:g.208028606G= NCBI36
NG_007081.2:g.22497C=

Transcript Alleles

HGVS Amino-acid Change
NM_006147.4:c.1186C= MANE Select NP_006138.1:p.Pro396=
ENST00000367021.8:c.1186C= MANE Select ENSP00000355988.3:p.Pro396=
NM_001206696.1:c.901C= NP_001193625.1:p.Pro301=
NM_001206696.2:c.901C= NP_001193625.1:p.Pro301=
NM_006147.3:c.1186C= NP_006138.1:p.Pro396=
ENST00000367021.7:c.1186C= ENSP00000355988.3:p.Pro396=
ENST00000542854.5:c.901C= ENSP00000440532.1:p.Pro301=
ENST00000643798.1:c.*696C= ENSP00000496669.1:n.*696C=
ENST00000696133.1:c.1186C= ENSP00000512426.1:p.Pro396=
ENST00000696134.1:c.*613C= ENSP00000512427.1:n.*613C=