Canonical Allele Identifier: CA344585590

Gene: IRF6

Linked Data

• ClinVar Variation Id: 458681
• ClinVar RCV Id: RCV001378521
• dbSNP Id: rs1553248635
• MyVariant Identifiers: chr1:g.209974639C>A (hg19) ; chr1:g.209801294C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801294C>A , CM000663.2:g.209801294C>A	GRCh38
NC_000001.10:g.209974639C>A , CM000663.1:g.209974639C>A	GRCh37
NC_000001.9:g.208041262C>A	NCBI36
NG_007081.2:g.9841G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.120G>T	ENSP00000512426.1:p.Trp40Cys
ENST00000696134.1:c.120G>T	ENSP00000512427.1:p.Trp40Cys
ENST00000367021.8:c.120G>T MANE Select	ENSP00000355988.3:p.Trp40Cys
ENST00000643798.1:c.120G>T	ENSP00000496669.1:p.Trp40Cys
ENST00000367021.7:c.120G>T	ENSP00000355988.3:p.Trp40Cys
ENST00000456314.1:c.120G>T	ENSP00000403855.1:p.Trp40Cys
ENST00000542854.5:c.-112+4653G>T	ENSP00000440532.1:n.-112+4653G>T
NM_001206696.1:c.-112+4653G>T	NP_001193625.1:n.-112+4653G>T
NM_006147.3:c.120G>T	NP_006138.1:p.Trp40Cys
NM_006147.4:c.120G>T MANE Select	NP_006138.1:p.Trp40Cys
NM_001206696.2:c.-112+4653G>T	NP_001193625.1:n.-112+4653G>T