Canonical Allele Identifier: CA1011773435

Gene: IRF6

Linked Data

• dbSNP Id: rs2077830761
• gnomAD v3: 1-209785946-T-C
• gnomAD v4: 1-209785946-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209785946T>C , CM000663.2:g.209785946T>C	GRCh38
NC_000001.10:g.209959291T>C , CM000663.1:g.209959291T>C	GRCh37
NC_000001.9:g.208025914T>C	NCBI36
NG_007081.2:g.25189A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1401-2237A>G	ENSP00000512426.1:n.1401-2237A>G
ENST00000696134.1:c.*3305A>G	ENSP00000512427.1:n.*3305A>G
ENST00000367021.8:c.*2474A>G MANE Select	ENSP00000355988.3:n.*2474A>G
ENST00000367021.7:c.*2474A>G	ENSP00000355988.3:n.*2474A>G
ENST00000542854.5:c.*2474A>G	ENSP00000440532.1:n.*2474A>G
NM_001206696.1:c.*2474A>G	NP_001193625.1:n.*2474A>G
NM_006147.3:c.*2474A>G	NP_006138.1:n.*2474A>G
NM_006147.4:c.*2474A>G MANE Select	NP_006138.1:n.*2474A>G
NM_001206696.2:c.*2474A>G	NP_001193625.1:n.*2474A>G