Canonical Allele Identifier: CA423024441

Gene: IRF6

Linked Data

• gnomAD v4: 1-209788420-T-C
• MyVariant Identifiers: chr1:g.209961765T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788420T>C , CM000663.2:g.209788420T>C	GRCh38
NC_000001.10:g.209961765T>C , CM000663.1:g.209961765T>C	GRCh37
NC_000001.9:g.208028388T>C	NCBI36
NG_007081.2:g.22715A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+4A>G	ENSP00000512426.1:n.1400+4A>G
ENST00000696134.1:c.*831A>G	ENSP00000512427.1:n.*831A>G
ENST00000367021.8:c.1404A>G MANE Select	ENSP00000355988.3:p.Ter468=
ENST00000643798.1:c.*914A>G	ENSP00000496669.1:n.*914A>G
ENST00000367021.7:c.1404A>G	ENSP00000355988.3:p.Ter468=
ENST00000542854.5:c.1119A>G	ENSP00000440532.1:p.Ter373=
NM_001206696.1:c.1119A>G	NP_001193625.1:p.Ter373=
NM_006147.3:c.1404A>G	NP_006138.1:p.Ter468=
NM_006147.4:c.1404A>G MANE Select	NP_006138.1:p.Ter468=
NM_001206696.2:c.1119A>G	NP_001193625.1:p.Ter373=