Canonical Allele Identifier: CA344586101

Gene: IRF6

Linked Data

• ClinVar Variation Id: 449040
• ClinVar RCV Id: RCV000523309
• dbSNP Id: rs1553248640
• gnomAD v4: 1-209801388-C-T
• COSMIC: COSM4897631
• MyVariant Identifiers: chr1:g.209974733C>T (hg19) ; chr1:g.209801388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801388C>T , CM000663.2:g.209801388C>T	GRCh38
NC_000001.10:g.209974733C>T , CM000663.1:g.209974733C>T	GRCh37
NC_000001.9:g.208041356C>T	NCBI36
NG_007081.2:g.9747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.26G>A	ENSP00000512426.1:p.Arg9Gln
ENST00000696134.1:c.26G>A	ENSP00000512427.1:p.Arg9Gln
ENST00000367021.8:c.26G>A MANE Select	ENSP00000355988.3:p.Arg9Gln
ENST00000643798.1:c.26G>A	ENSP00000496669.1:p.Arg9Gln
ENST00000367021.7:c.26G>A	ENSP00000355988.3:p.Arg9Gln
ENST00000456314.1:c.26G>A	ENSP00000403855.1:p.Arg9Gln
ENST00000542854.5:c.-112+4559G>A	ENSP00000440532.1:n.-112+4559G>A
NM_001206696.1:c.-112+4559G>A	NP_001193625.1:n.-112+4559G>A
NM_006147.3:c.26G>A	NP_006138.1:p.Arg9Gln
NM_006147.4:c.26G>A MANE Select	NP_006138.1:p.Arg9Gln
NM_001206696.2:c.-112+4559G>A	NP_001193625.1:n.-112+4559G>A