Canonical Allele Identifier: CA344577550

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790806C>T , CM000663.2:g.209790806C>T	GRCh38
NC_000001.10:g.209964151C>T , CM000663.1:g.209964151C>T	GRCh37
NC_000001.9:g.208030774C>T	NCBI36
NG_007081.2:g.20329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.749G>A	ENSP00000512426.1:p.Arg250Gln
ENST00000696134.1:c.*176G>A	ENSP00000512427.1:n.*176G>A
ENST00000367021.8:c.749G>A MANE Select	ENSP00000355988.3:p.Arg250Gln
ENST00000643798.1:c.*259G>A	ENSP00000496669.1:n.*259G>A
ENST00000367021.7:c.749G>A	ENSP00000355988.3:p.Arg250Gln
ENST00000456314.1:c.749G>A	ENSP00000403855.1:p.Arg250Gln
ENST00000464698.1:n.528G>A
ENST00000542854.5:c.464G>A	ENSP00000440532.1:p.Arg155Gln
NM_001206696.1:c.464G>A	NP_001193625.1:p.Arg155Gln
NM_006147.3:c.749G>A	NP_006138.1:p.Arg250Gln
NM_006147.4:c.749G>A MANE Select	NP_006138.1:p.Arg250Gln
NM_001206696.2:c.464G>A	NP_001193625.1:p.Arg155Gln