Canonical Allele Identifier: CA10588280
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 265480
ClinVar RCV Id: RCV000255193
dbSNP Id: rs886039570
COSMIC: COSM121073

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801260C>A , CM000663.2:g.209801260C>A GRCh38
NC_000001.10:g.209974605C>A , CM000663.1:g.209974605C>A GRCh37
NC_000001.9:g.208041228C>A NCBI36
NG_007081.2:g.9875G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.154G>T ENSP00000512426.1:p.Glu52Ter
ENST00000696134.1:c.154G>T ENSP00000512427.1:p.Glu52Ter
ENST00000367021.8:c.154G>T MANE Select ENSP00000355988.3:p.Glu52Ter
ENST00000643798.1:c.154G>T ENSP00000496669.1:p.Glu52Ter
ENST00000367021.7:c.154G>T ENSP00000355988.3:p.Glu52Ter
ENST00000456314.1:c.154G>T ENSP00000403855.1:p.Glu52Ter
ENST00000542854.5:c.-112+4687G>T ENSP00000440532.1:n.-112+4687G>T
NM_001206696.1:c.-112+4687G>T NP_001193625.1:n.-112+4687G>T
NM_006147.3:c.154G>T NP_006138.1:p.Glu52Ter
NM_006147.4:c.154G>T MANE Select NP_006138.1:p.Glu52Ter
NM_001206696.2:c.-112+4687G>T NP_001193625.1:n.-112+4687G>T