Canonical Allele Identifier: CA344585423

Gene: IRF6

Linked Data

• ClinVar Variation Id: 981801
• ClinVar RCV Id: RCV001261360
• dbSNP Id: rs2077939867
• MyVariant Identifiers: chr1:g.209974601T>C (hg19) ; chr1:g.209801256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801256T>C , CM000663.2:g.209801256T>C	GRCh38
NC_000001.10:g.209974601T>C , CM000663.1:g.209974601T>C	GRCh37
NC_000001.9:g.208041224T>C	NCBI36
NG_007081.2:g.9879A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.158A>G	ENSP00000512426.1:p.Glu53Gly
ENST00000696134.1:c.158A>G	ENSP00000512427.1:p.Glu53Gly
ENST00000367021.8:c.158A>G MANE Select	ENSP00000355988.3:p.Glu53Gly
ENST00000643798.1:c.158A>G	ENSP00000496669.1:p.Glu53Gly
ENST00000367021.7:c.158A>G	ENSP00000355988.3:p.Glu53Gly
ENST00000456314.1:c.158A>G	ENSP00000403855.1:p.Glu53Gly
ENST00000542854.5:c.-112+4691A>G	ENSP00000440532.1:n.-112+4691A>G
NM_001206696.1:c.-112+4691A>G	NP_001193625.1:n.-112+4691A>G
NM_006147.3:c.158A>G	NP_006138.1:p.Glu53Gly
NM_006147.4:c.158A>G MANE Select	NP_006138.1:p.Glu53Gly
NM_001206696.2:c.-112+4691A>G	NP_001193625.1:n.-112+4691A>G