Canonical Allele Identifier: CA344575602

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790605C>T , CM000663.2:g.209790605C>T	GRCh38
NC_000001.10:g.209963950C>T , CM000663.1:g.209963950C>T	GRCh37
NC_000001.9:g.208030573C>T	NCBI36
NG_007081.2:g.20530G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.950G>A MANE Select	NP_006138.1:p.Cys317Tyr
ENST00000367021.8:c.950G>A MANE Select	ENSP00000355988.3:p.Cys317Tyr
NM_001206696.1:c.665G>A	NP_001193625.1:p.Cys222Tyr
NM_001206696.2:c.665G>A	NP_001193625.1:p.Cys222Tyr
NM_006147.3:c.950G>A	NP_006138.1:p.Cys317Tyr
ENST00000367021.7:c.950G>A	ENSP00000355988.3:p.Cys317Tyr
ENST00000542854.5:c.665G>A	ENSP00000440532.1:p.Cys222Tyr
ENST00000643798.1:c.*460G>A	ENSP00000496669.1:n.*460G>A
ENST00000696133.1:c.950G>A	ENSP00000512426.1:p.Cys317Tyr
ENST00000696134.1:c.*377G>A	ENSP00000512427.1:n.*377G>A