Canonical Allele Identifier: CA252764
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3421
dbSNP Id: rs121434229

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801280C>T , CM000663.2:g.209801280C>T GRCh38
NC_000001.10:g.209974625C>T , CM000663.1:g.209974625C>T GRCh37
NC_000001.9:g.208041248C>T NCBI36
NG_007081.2:g.9855G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.134G>A ENSP00000512426.1:p.Arg45Gln
ENST00000696134.1:c.134G>A ENSP00000512427.1:p.Arg45Gln
ENST00000367021.8:c.134G>A MANE Select ENSP00000355988.3:p.Arg45Gln
ENST00000643798.1:c.134G>A ENSP00000496669.1:p.Arg45Gln
ENST00000367021.7:c.134G>A ENSP00000355988.3:p.Arg45Gln
ENST00000456314.1:c.134G>A ENSP00000403855.1:p.Arg45Gln
ENST00000542854.5:c.-112+4667G>A ENSP00000440532.1:n.-112+4667G>A
NM_001206696.1:c.-112+4667G>A NP_001193625.1:n.-112+4667G>A
NM_006147.3:c.134G>A NP_006138.1:p.Arg45Gln
NM_006147.4:c.134G>A MANE Select NP_006138.1:p.Arg45Gln
NM_001206696.2:c.-112+4667G>A NP_001193625.1:n.-112+4667G>A