Canonical Allele Identifier: CA252759

Gene: IRF6

Linked Data

• ClinVar Variation Id: 3417
• ClinVar RCV Id: RCV000003586 ; RCV000414901 ; RCV000413551 ; RCV000762880
• dbSNP Id: rs28942094
• COSMIC: COSM4143299
• MyVariant Identifiers: chr1:g.209974743G>A (hg19) ; chr1:g.209801398G>A (hg38)
• PubMed: PMID:12920575

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801398G>A , CM000663.2:g.209801398G>A	GRCh38
NC_000001.10:g.209974743G>A , CM000663.1:g.209974743G>A	GRCh37
NC_000001.9:g.208041366G>A	NCBI36
NG_007081.2:g.9737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.16C>T	ENSP00000512426.1:p.Arg6Cys
ENST00000696134.1:c.16C>T	ENSP00000512427.1:p.Arg6Cys
ENST00000367021.8:c.16C>T MANE Select	ENSP00000355988.3:p.Arg6Cys
ENST00000643798.1:c.16C>T	ENSP00000496669.1:p.Arg6Cys
ENST00000367021.7:c.16C>T	ENSP00000355988.3:p.Arg6Cys
ENST00000456314.1:c.16C>T	ENSP00000403855.1:p.Arg6Cys
ENST00000542854.5:c.-112+4549C>T	ENSP00000440532.1:n.-112+4549C>T
NM_001206696.1:c.-112+4549C>T	NP_001193625.1:n.-112+4549C>T
NM_006147.3:c.16C>T	NP_006138.1:p.Arg6Cys
NM_006147.4:c.16C>T MANE Select	NP_006138.1:p.Arg6Cys
NM_001206696.2:c.-112+4549C>T	NP_001193625.1:n.-112+4549C>T