Canonical Allele Identifier: CA658795588

Gene: IRF6

Linked Data

• ClinVar Variation Id: 533112
• ClinVar RCV Id: RCV000640126
• dbSNP Id: rs1553247787
• MyVariant Identifiers: chr1:g.209964237A>C (hg19) ; chr1:g.209790892A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790892A>C , CM000663.2:g.209790892A>C	GRCh38
NC_000001.10:g.209964237A>C , CM000663.1:g.209964237A>C	GRCh37
NC_000001.9:g.208030860A>C	NCBI36
NG_007081.2:g.20243T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.668-5T>G	ENSP00000512426.1:n.668-5T>G
ENST00000696134.1:c.*90T>G	ENSP00000512427.1:n.*90T>G
ENST00000367021.8:c.668-5T>G MANE Select	ENSP00000355988.3:n.668-5T>G
ENST00000643798.1:c.*178-5T>G	ENSP00000496669.1:n.*178-5T>G
ENST00000367021.7:c.668-5T>G	ENSP00000355988.3:n.668-5T>G
ENST00000456314.1:c.668-5T>G	ENSP00000403855.1:n.668-5T>G
ENST00000464698.1:n.447-5T>G
ENST00000542854.5:c.383-5T>G	ENSP00000440532.1:n.383-5T>G
NM_001206696.1:c.383-5T>G	NP_001193625.1:n.383-5T>G
NM_006147.3:c.668-5T>G	NP_006138.1:n.668-5T>G
NM_006147.4:c.668-5T>G MANE Select	NP_006138.1:n.668-5T>G
NM_001206696.2:c.383-5T>G	NP_001193625.1:n.383-5T>G