Canonical Allele Identifier: CA344575003
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209790494C>T , CM000663.2:g.209790494C>T GRCh38
NC_000001.10:g.209963839C>T , CM000663.1:g.209963839C>T GRCh37
NC_000001.9:g.208030462C>T NCBI36
NG_007081.2:g.20641G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1060+1G>A ENSP00000512426.1:n.1060+1G>A
ENST00000696134.1:c.*487+1G>A ENSP00000512427.1:n.*487+1G>A
ENST00000367021.8:c.1060+1G>A MANE Select ENSP00000355988.3:n.1060+1G>A
ENST00000643798.1:c.*570+1G>A ENSP00000496669.1:n.*570+1G>A
ENST00000367021.7:c.1060+1G>A ENSP00000355988.3:n.1060+1G>A
ENST00000542854.5:c.775+1G>A ENSP00000440532.1:n.775+1G>A
NM_001206696.1:c.775+1G>A NP_001193625.1:n.775+1G>A
NM_006147.3:c.1060+1G>A NP_006138.1:n.1060+1G>A
NM_006147.4:c.1060+1G>A MANE Select NP_006138.1:n.1060+1G>A
NM_001206696.2:c.775+1G>A NP_001193625.1:n.775+1G>A