Canonical Allele Identifier: CA344578730

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209792277G>A , CM000663.2:g.209792277G>A	GRCh38
NC_000001.10:g.209965622G>A , CM000663.1:g.209965622G>A	GRCh37
NC_000001.9:g.208032245G>A	NCBI36
NG_007081.2:g.18858C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.659C>T MANE Select	NP_006138.1:p.Ser220Phe
ENST00000367021.8:c.659C>T MANE Select	ENSP00000355988.3:p.Ser220Phe
NM_001206696.1:c.374C>T	NP_001193625.1:p.Ser125Phe
NM_001206696.2:c.374C>T	NP_001193625.1:p.Ser125Phe
NM_006147.3:c.659C>T	NP_006138.1:p.Ser220Phe
ENST00000367021.7:c.659C>T	ENSP00000355988.3:p.Ser220Phe
ENST00000456314.1:c.659C>T	ENSP00000403855.1:p.Ser220Phe
ENST00000464698.1:n.438C>T
ENST00000542854.5:c.374C>T	ENSP00000440532.1:p.Ser125Phe
ENST00000643798.1:c.*169C>T	ENSP00000496669.1:n.*169C>T
ENST00000696133.1:c.659C>T	ENSP00000512426.1:p.Ser220Phe
ENST00000696134.1:c.659C>T	ENSP00000512427.1:p.Ser220Phe