Canonical Allele Identifier: CA277849

Gene: IRF6

Linked Data

• ClinVar Variation Id: 217873
• ClinVar RCV Id: RCV000201948 ; RCV000430826 ; RCV002229128
• dbSNP Id: rs769068305
• MyVariant Identifiers: chr1:g.209961959C>T (hg19) ; chr1:g.209788614C>T (hg38)
• PubMed: PMID:19282774

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788614C>T , CM000663.2:g.209788614C>T	GRCh38
NC_000001.10:g.209961959C>T , CM000663.1:g.209961959C>T	GRCh37
NC_000001.9:g.208028582C>T	NCBI36
NG_007081.2:g.22521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1210G>A	ENSP00000512426.1:p.Glu404Lys
ENST00000696134.1:c.*637G>A	ENSP00000512427.1:n.*637G>A
ENST00000367021.8:c.1210G>A MANE Select	ENSP00000355988.3:p.Glu404Lys
ENST00000643798.1:c.*720G>A	ENSP00000496669.1:n.*720G>A
ENST00000367021.7:c.1210G>A	ENSP00000355988.3:p.Glu404Lys
ENST00000542854.5:c.925G>A	ENSP00000440532.1:p.Glu309Lys
NM_001206696.1:c.925G>A	NP_001193625.1:p.Glu309Lys
NM_006147.3:c.1210G>A	NP_006138.1:p.Glu404Lys
NM_006147.4:c.1210G>A MANE Select	NP_006138.1:p.Glu404Lys
NM_001206696.2:c.925G>A	NP_001193625.1:p.Glu309Lys