Canonical Allele Identifier: CA252766

Gene: IRF6

Linked Data

• ClinVar Variation Id: 3423
• ClinVar RCV Id: RCV000003592 ; RCV000023627
• dbSNP Id: rs121434231
• MyVariant Identifiers: chr1:g.209963884C>A (hg19) ; chr1:g.209790539C>A (hg38)
• PubMed: PMID:18478600

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1016G>T	ENSP00000512426.1:p.Arg339Ile
ENST00000696134.1:c.*443G>T	ENSP00000512427.1:n.*443G>T
ENST00000367021.8:c.1016G>T MANE Select	ENSP00000355988.3:p.Arg339Ile
ENST00000643798.1:c.*526G>T	ENSP00000496669.1:n.*526G>T
ENST00000367021.7:c.1016G>T	ENSP00000355988.3:p.Arg339Ile
ENST00000542854.5:c.731G>T	ENSP00000440532.1:p.Arg244Ile
NM_001206696.1:c.731G>T	NP_001193625.1:p.Arg244Ile
NM_006147.3:c.1016G>T	NP_006138.1:p.Arg339Ile
NM_006147.4:c.1016G>T MANE Select	NP_006138.1:p.Arg339Ile
NM_001206696.2:c.731G>T	NP_001193625.1:p.Arg244Ile