Canonical Allele Identifier: CA423026955

Gene: IRF6

Linked Data

• gnomAD v4: 1-209788642-G-T
• MyVariant Identifiers: chr1:g.209961987G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788642G>T , CM000663.2:g.209788642G>T	GRCh38
NC_000001.10:g.209961987G>T , CM000663.1:g.209961987G>T	GRCh37
NC_000001.9:g.208028610G>T	NCBI36
NG_007081.2:g.22493C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1182C>A	ENSP00000512426.1:p.Val394=
ENST00000696134.1:c.*609C>A	ENSP00000512427.1:n.*609C>A
ENST00000367021.8:c.1182C>A MANE Select	ENSP00000355988.3:p.Val394=
ENST00000643798.1:c.*692C>A	ENSP00000496669.1:n.*692C>A
ENST00000367021.7:c.1182C>A	ENSP00000355988.3:p.Val394=
ENST00000542854.5:c.897C>A	ENSP00000440532.1:p.Val299=
NM_001206696.1:c.897C>A	NP_001193625.1:p.Val299=
NM_006147.3:c.1182C>A	NP_006138.1:p.Val394=
NM_006147.4:c.1182C>A MANE Select	NP_006138.1:p.Val394=
NM_001206696.2:c.897C>A	NP_001193625.1:p.Val299=