Canonical Allele Identifier: CA344573006

Gene: IRF6

Linked Data

• MyVariant Identifiers: chr1:g.209961881C>G (hg19) ; chr1:g.209788536C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788536C>G , CM000663.2:g.209788536C>G	GRCh38
NC_000001.10:g.209961881C>G , CM000663.1:g.209961881C>G	GRCh37
NC_000001.9:g.208028504C>G	NCBI36
NG_007081.2:g.22599G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1288G>C	ENSP00000512426.1:p.Asp430His
ENST00000696134.1:c.*715G>C	ENSP00000512427.1:n.*715G>C
ENST00000367021.8:c.1288G>C MANE Select	ENSP00000355988.3:p.Asp430His
ENST00000643798.1:c.*798G>C	ENSP00000496669.1:n.*798G>C
ENST00000367021.7:c.1288G>C	ENSP00000355988.3:p.Asp430His
ENST00000542854.5:c.1003G>C	ENSP00000440532.1:p.Asp335His
NM_001206696.1:c.1003G>C	NP_001193625.1:p.Asp335His
NM_006147.3:c.1288G>C	NP_006138.1:p.Asp430His
NM_006147.4:c.1288G>C MANE Select	NP_006138.1:p.Asp430His
NM_001206696.2:c.1003G>C	NP_001193625.1:p.Asp335His