Canonical Allele Identifier: CA344575258

Gene: IRF6

Linked Data

• COSMIC: COSM3482919
• MyVariant Identifiers: chr1:g.209963884C>T (hg19) ; chr1:g.209790539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790539C>T , CM000663.2:g.209790539C>T	GRCh38
NC_000001.10:g.209963884C>T , CM000663.1:g.209963884C>T	GRCh37
NC_000001.9:g.208030507C>T	NCBI36
NG_007081.2:g.20596G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1016G>A	ENSP00000512426.1:p.Arg339Lys
ENST00000696134.1:c.*443G>A	ENSP00000512427.1:n.*443G>A
ENST00000367021.8:c.1016G>A MANE Select	ENSP00000355988.3:p.Arg339Lys
ENST00000643798.1:c.*526G>A	ENSP00000496669.1:n.*526G>A
ENST00000367021.7:c.1016G>A	ENSP00000355988.3:p.Arg339Lys
ENST00000542854.5:c.731G>A	ENSP00000440532.1:p.Arg244Lys
NM_001206696.1:c.731G>A	NP_001193625.1:p.Arg244Lys
NM_006147.3:c.1016G>A	NP_006138.1:p.Arg339Lys
NM_006147.4:c.1016G>A MANE Select	NP_006138.1:p.Arg339Lys
NM_001206696.2:c.731G>A	NP_001193625.1:p.Arg244Lys