Canonical Allele Identifier: CA1377362

Gene: IRF6

Linked Data

• ClinVar Variation Id: 1167033
• ClinVar RCV Id: RCV001515899
• dbSNP Id: rs550521875
• ExAC: 1:209969721 A / C
• gnomAD v2: 1-209969721-A-C
• gnomAD v3: 1-209796376-A-C
• gnomAD v4: 1-209796376-A-C
• MyVariant Identifiers: chr1:g.209969721A>C (hg19) ; chr1:g.209796376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209796376A>C , CM000663.2:g.209796376A>C	GRCh38
NC_000001.10:g.209969721A>C , CM000663.1:g.209969721A>C	GRCh37
NC_000001.9:g.208036344A>C	NCBI36
NG_007081.2:g.14759T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.351T>G	ENSP00000512426.1:p.Pro117=
ENST00000696134.1:c.351T>G	ENSP00000512427.1:p.Pro117=
ENST00000367021.8:c.351T>G MANE Select	ENSP00000355988.3:p.Pro117=
ENST00000643798.1:c.351T>G	ENSP00000496669.1:p.Pro117=
ENST00000367021.7:c.351T>G	ENSP00000355988.3:p.Pro117=
ENST00000456314.1:c.351T>G	ENSP00000403855.1:p.Pro117=
ENST00000542854.5:c.66T>G	ENSP00000440532.1:p.Pro22=
NM_001206696.1:c.66T>G	NP_001193625.1:p.Pro22=
NM_006147.3:c.351T>G	NP_006138.1:p.Pro117=
NM_006147.4:c.351T>G MANE Select	NP_006138.1:p.Pro117=
NM_001206696.2:c.66T>G	NP_001193625.1:p.Pro22=