Canonical Allele Identifier: CA10588280

Gene: IRF6

Linked Data

• ClinVar Variation Id: 265480
• ClinVar RCV Id: RCV000255193
• dbSNP Id: rs886039570
• COSMIC: COSM121073
• MyVariant Identifiers: chr1:g.209974605C>A (hg19) ; chr1:g.209801260C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801260C>A , CM000663.2:g.209801260C>A	GRCh38
NC_000001.10:g.209974605C>A , CM000663.1:g.209974605C>A	GRCh37
NC_000001.9:g.208041228C>A	NCBI36
NG_007081.2:g.9875G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.154G>T	ENSP00000512426.1:p.Glu52Ter
ENST00000696134.1:c.154G>T	ENSP00000512427.1:p.Glu52Ter
ENST00000367021.8:c.154G>T MANE Select	ENSP00000355988.3:p.Glu52Ter
ENST00000643798.1:c.154G>T	ENSP00000496669.1:p.Glu52Ter
ENST00000367021.7:c.154G>T	ENSP00000355988.3:p.Glu52Ter
ENST00000456314.1:c.154G>T	ENSP00000403855.1:p.Glu52Ter
ENST00000542854.5:c.-112+4687G>T	ENSP00000440532.1:n.-112+4687G>T
NM_001206696.1:c.-112+4687G>T	NP_001193625.1:n.-112+4687G>T
NM_006147.3:c.154G>T	NP_006138.1:p.Glu52Ter
NM_006147.4:c.154G>T MANE Select	NP_006138.1:p.Glu52Ter
NM_001206696.2:c.-112+4687G>T	NP_001193625.1:n.-112+4687G>T