Canonical Allele Identifier: CA344577962

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790844G>C , CM000663.2:g.209790844G>C	GRCh38
NC_000001.10:g.209964189G>C , CM000663.1:g.209964189G>C	GRCh37
NC_000001.9:g.208030812G>C	NCBI36
NG_007081.2:g.20291C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.711C>G MANE Select	NP_006138.1:p.Tyr237Ter
ENST00000367021.8:c.711C>G MANE Select	ENSP00000355988.3:p.Tyr237Ter
NM_001206696.1:c.426C>G	NP_001193625.1:p.Tyr142Ter
NM_001206696.2:c.426C>G	NP_001193625.1:p.Tyr142Ter
NM_006147.3:c.711C>G	NP_006138.1:p.Tyr237Ter
ENST00000367021.7:c.711C>G	ENSP00000355988.3:p.Tyr237Ter
ENST00000456314.1:c.711C>G	ENSP00000403855.1:p.Tyr237Ter
ENST00000464698.1:n.490C>G
ENST00000542854.5:c.426C>G	ENSP00000440532.1:p.Tyr142Ter
ENST00000643798.1:c.*221C>G	ENSP00000496669.1:n.*221C>G
ENST00000696133.1:c.711C>G	ENSP00000512426.1:p.Tyr237Ter
ENST00000696134.1:c.*138C>G	ENSP00000512427.1:n.*138C>G