Canonical Allele Identifier: CA10586692

Gene: IRF6

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788508A>G , CM000663.2:g.209788508A>G	GRCh38
NC_000001.10:g.209961853A>G , CM000663.1:g.209961853A>G	GRCh37
NC_000001.9:g.208028476A>G	NCBI36
NG_007081.2:g.22627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1316T>C	ENSP00000512426.1:p.Leu439Pro
ENST00000696134.1:c.*743T>C	ENSP00000512427.1:n.*743T>C
ENST00000367021.8:c.1316T>C MANE Select	ENSP00000355988.3:p.Leu439Pro
ENST00000643798.1:c.*826T>C	ENSP00000496669.1:n.*826T>C
ENST00000367021.7:c.1316T>C	ENSP00000355988.3:p.Leu439Pro
ENST00000542854.5:c.1031T>C	ENSP00000440532.1:p.Leu344Pro
NM_001206696.1:c.1031T>C	NP_001193625.1:p.Leu344Pro
NM_006147.3:c.1316T>C	NP_006138.1:p.Leu439Pro
NM_006147.4:c.1316T>C MANE Select	NP_006138.1:p.Leu439Pro
NM_001206696.2:c.1031T>C	NP_001193625.1:p.Leu344Pro