Canonical Allele Identifier: CA252762

Gene: IRF6

Linked Data

• ClinVar Variation Id: 3419
• ClinVar RCV Id: RCV000003588 ; RCV001060699
• dbSNP Id: rs28942095
• MyVariant Identifiers: chr1:g.209961971G>A (hg19) ; chr1:g.209788626G>A (hg38)
• PubMed: PMID:12920575 ; PMID:20184620

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788626G>A , CM000663.2:g.209788626G>A	GRCh38
NC_000001.10:g.209961971G>A , CM000663.1:g.209961971G>A	GRCh37
NC_000001.9:g.208028594G>A	NCBI36
NG_007081.2:g.22509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1198C>T	ENSP00000512426.1:p.Arg400Trp
ENST00000696134.1:c.*625C>T	ENSP00000512427.1:n.*625C>T
ENST00000367021.8:c.1198C>T MANE Select	ENSP00000355988.3:p.Arg400Trp
ENST00000643798.1:c.*708C>T	ENSP00000496669.1:n.*708C>T
ENST00000367021.7:c.1198C>T	ENSP00000355988.3:p.Arg400Trp
ENST00000542854.5:c.913C>T	ENSP00000440532.1:p.Arg305Trp
NM_001206696.1:c.913C>T	NP_001193625.1:p.Arg305Trp
NM_006147.3:c.1198C>T	NP_006138.1:p.Arg400Trp
NM_006147.4:c.1198C>T MANE Select	NP_006138.1:p.Arg400Trp
NM_001206696.2:c.913C>T	NP_001193625.1:p.Arg305Trp