Canonical Allele Identifier: CA344575397

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790566G>T , CM000663.2:g.209790566G>T	GRCh38
NC_000001.10:g.209963911G>T , CM000663.1:g.209963911G>T	GRCh37
NC_000001.9:g.208030534G>T	NCBI36
NG_007081.2:g.20569C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.989C>A MANE Select	NP_006138.1:p.Ser330Ter
ENST00000367021.8:c.989C>A MANE Select	ENSP00000355988.3:p.Ser330Ter
NM_001206696.1:c.704C>A	NP_001193625.1:p.Ser235Ter
NM_001206696.2:c.704C>A	NP_001193625.1:p.Ser235Ter
NM_006147.3:c.989C>A	NP_006138.1:p.Ser330Ter
ENST00000367021.7:c.989C>A	ENSP00000355988.3:p.Ser330Ter
ENST00000542854.5:c.704C>A	ENSP00000440532.1:p.Ser235Ter
ENST00000643798.1:c.*499C>A	ENSP00000496669.1:n.*499C>A
ENST00000696133.1:c.989C>A	ENSP00000512426.1:p.Ser330Ter
ENST00000696134.1:c.*416C>A	ENSP00000512427.1:n.*416C>A