Canonical Allele Identifier: CA344575083

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790510C>A , CM000663.2:g.209790510C>A	GRCh38
NC_000001.10:g.209963855C>A , CM000663.1:g.209963855C>A	GRCh37
NC_000001.9:g.208030478C>A	NCBI36
NG_007081.2:g.20625G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.1045G>T MANE Select	NP_006138.1:p.Glu349Ter
ENST00000367021.8:c.1045G>T MANE Select	ENSP00000355988.3:p.Glu349Ter
NM_001206696.1:c.760G>T	NP_001193625.1:p.Glu254Ter
NM_001206696.2:c.760G>T	NP_001193625.1:p.Glu254Ter
NM_006147.3:c.1045G>T	NP_006138.1:p.Glu349Ter
ENST00000367021.7:c.1045G>T	ENSP00000355988.3:p.Glu349Ter
ENST00000542854.5:c.760G>T	ENSP00000440532.1:p.Glu254Ter
ENST00000643798.1:c.*555G>T	ENSP00000496669.1:n.*555G>T
ENST00000696133.1:c.1045G>T	ENSP00000512426.1:p.Glu349Ter
ENST00000696134.1:c.*472G>T	ENSP00000512427.1:n.*472G>T