Canonical Allele Identifier: CA423025831

Gene: IRF6

Linked Data

• MyVariant Identifiers: chr1:g.209961894G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788549G>T , CM000663.2:g.209788549G>T	GRCh38
NC_000001.10:g.209961894G>T , CM000663.1:g.209961894G>T	GRCh37
NC_000001.9:g.208028517G>T	NCBI36
NG_007081.2:g.22586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1275C>A	ENSP00000512426.1:p.Thr425=
ENST00000696134.1:c.*702C>A	ENSP00000512427.1:n.*702C>A
ENST00000367021.8:c.1275C>A MANE Select	ENSP00000355988.3:p.Thr425=
ENST00000643798.1:c.*785C>A	ENSP00000496669.1:n.*785C>A
ENST00000367021.7:c.1275C>A	ENSP00000355988.3:p.Thr425=
ENST00000542854.5:c.990C>A	ENSP00000440532.1:p.Thr330=
NM_001206696.1:c.990C>A	NP_001193625.1:p.Thr330=
NM_006147.3:c.1275C>A	NP_006138.1:p.Thr425=
NM_006147.4:c.1275C>A MANE Select	NP_006138.1:p.Thr425=
NM_001206696.2:c.990C>A	NP_001193625.1:p.Thr330=