Canonical Allele Identifier: CA2650334020

Gene: IRF6

Linked Data

• gnomAD v4: 1-209788419-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788419A>C , CM000663.2:g.209788419A>C	GRCh38
NC_000001.10:g.209961764A>C , CM000663.1:g.209961764A>C	GRCh37
NC_000001.9:g.208028387A>C	NCBI36
NG_007081.2:g.22716T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+5T>G	ENSP00000512426.1:n.1400+5T>G
ENST00000696134.1:c.*832T>G	ENSP00000512427.1:n.*832T>G
ENST00000367021.8:c.*1T>G MANE Select	ENSP00000355988.3:n.*1T>G
ENST00000643798.1:c.*915T>G	ENSP00000496669.1:n.*915T>G
ENST00000367021.7:c.*1T>G	ENSP00000355988.3:n.*1T>G
ENST00000542854.5:c.*1T>G	ENSP00000440532.1:n.*1T>G
NM_001206696.1:c.*1T>G	NP_001193625.1:n.*1T>G
NM_006147.3:c.*1T>G	NP_006138.1:n.*1T>G
NM_006147.4:c.*1T>G MANE Select	NP_006138.1:n.*1T>G
NM_001206696.2:c.*1T>G	NP_001193625.1:n.*1T>G