Canonical Allele Identifier: CA2650334452

Gene: IRF6

Linked Data

• gnomAD v4: 1-209789586-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209789586T>C , CM000663.2:g.209789586T>C	GRCh38
NC_000001.10:g.209962931T>C , CM000663.1:g.209962931T>C	GRCh37
NC_000001.9:g.208029554T>C	NCBI36
NG_007081.2:g.21549A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1179+81A>G	ENSP00000512426.1:n.1179+81A>G
ENST00000696134.1:c.*606+81A>G	ENSP00000512427.1:n.*606+81A>G
ENST00000367021.8:c.1179+81A>G MANE Select	ENSP00000355988.3:n.1179+81A>G
ENST00000643798.1:c.*689+81A>G	ENSP00000496669.1:n.*689+81A>G
ENST00000367021.7:c.1179+81A>G	ENSP00000355988.3:n.1179+81A>G
ENST00000542854.5:c.894+81A>G	ENSP00000440532.1:n.894+81A>G
NM_001206696.1:c.894+81A>G	NP_001193625.1:n.894+81A>G
NM_006147.3:c.1179+81A>G	NP_006138.1:n.1179+81A>G
NM_006147.4:c.1179+81A>G MANE Select	NP_006138.1:n.1179+81A>G
NM_001206696.2:c.894+81A>G	NP_001193625.1:n.894+81A>G