Canonical Allele Identifier: CA344583715
Community Standard Title: NM_006147.4(IRF6):c.194G>A (p.Gly65Glu)
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209796533C>T , CM000663.2:g.209796533C>T GRCh38
NC_000001.10:g.209969878C>T , CM000663.1:g.209969878C>T GRCh37
NC_000001.9:g.208036501C>T NCBI36
NG_007081.2:g.14602G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006147.4:c.194G>A MANE Select NP_006138.1:p.Gly65Glu
ENST00000367021.8:c.194G>A MANE Select ENSP00000355988.3:p.Gly65Glu
NM_001206696.1:c.-92G>A NP_001193625.1:n.-92G>A
NM_001206696.2:c.-92G>A NP_001193625.1:n.-92G>A
NM_006147.3:c.194G>A NP_006138.1:p.Gly65Glu
ENST00000367021.7:c.194G>A ENSP00000355988.3:p.Gly65Glu
ENST00000456314.1:c.194G>A ENSP00000403855.1:p.Gly65Glu
ENST00000542854.5:c.-92G>A ENSP00000440532.1:n.-92G>A
ENST00000643798.1:c.194G>A ENSP00000496669.1:p.Gly65Glu
ENST00000696133.1:c.194G>A ENSP00000512426.1:p.Gly65Glu
ENST00000696134.1:c.194G>A ENSP00000512427.1:p.Gly65Glu