Canonical Allele Identifier: CA10609672

Gene: IRF6

Linked Data

• ClinVar Variation Id: 295178
• ClinVar RCV Id: RCV000350498 ; RCV000401160
• dbSNP Id: rs680331
• gnomAD v2: 1-209959872-G-A
• gnomAD v3: 1-209786527-G-A
• gnomAD v4: 1-209786527-G-A
• MyVariant Identifiers: chr1:g.209959872G>A (hg19) ; chr1:g.209786527G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786527G>A , CM000663.2:g.209786527G>A	GRCh38
NC_000001.10:g.209959872G>A , CM000663.1:g.209959872G>A	GRCh37
NC_000001.9:g.208026495G>A	NCBI36
NG_007081.2:g.24608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1400+1897C>T	ENSP00000512426.1:n.1400+1897C>T
ENST00000696134.1:c.*2724C>T	ENSP00000512427.1:n.*2724C>T
ENST00000367021.8:c.*1893C>T MANE Select	ENSP00000355988.3:n.*1893C>T
ENST00000367021.7:c.*1893C>T	ENSP00000355988.3:n.*1893C>T
ENST00000542854.5:c.*1893C>T	ENSP00000440532.1:n.*1893C>T
NM_001206696.1:c.*1893C>T	NP_001193625.1:n.*1893C>T
NM_006147.3:c.*1893C>T	NP_006138.1:n.*1893C>T
NM_006147.4:c.*1893C>T MANE Select	NP_006138.1:n.*1893C>T
NM_001206696.2:c.*1893C>T	NP_001193625.1:n.*1893C>T