Canonical Allele Identifier: CA10608899

Gene: IRF6

Linked Data

• ClinVar Variation Id: 295185
• ClinVar RCV Id: RCV000340595 ; RCV000402059
• dbSNP Id: rs149425923
• gnomAD v2: 1-209960500-C-G
• gnomAD v3: 1-209787155-C-G
• gnomAD v4: 1-209787155-C-G
• MyVariant Identifiers: chr1:g.209960500C>G (hg19) ; chr1:g.209787155C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209787155C>G , CM000663.2:g.209787155C>G	GRCh38
NC_000001.10:g.209960500C>G , CM000663.1:g.209960500C>G	GRCh37
NC_000001.9:g.208027123C>G	NCBI36
NG_007081.2:g.23980G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1400+1269G>C	ENSP00000512426.1:n.1400+1269G>C
ENST00000696134.1:c.*2096G>C	ENSP00000512427.1:n.*2096G>C
ENST00000367021.8:c.*1265G>C MANE Select	ENSP00000355988.3:n.*1265G>C
ENST00000367021.7:c.*1265G>C	ENSP00000355988.3:n.*1265G>C
ENST00000542854.5:c.*1265G>C	ENSP00000440532.1:n.*1265G>C
NM_001206696.1:c.*1265G>C	NP_001193625.1:n.*1265G>C
NM_006147.3:c.*1265G>C	NP_006138.1:n.*1265G>C
NM_006147.4:c.*1265G>C MANE Select	NP_006138.1:n.*1265G>C
NM_001206696.2:c.*1265G>C	NP_001193625.1:n.*1265G>C