Canonical Allele Identifier: CA1377314
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 875511
ClinVar RCV Id: RCV001099423 RCV001099422
dbSNP Id: rs781129893
ExAC: 1:209968622 C / T
gnomAD v2: 1-209968622-C-T
gnomAD v3: 1-209795277-C-T
gnomAD v4: 1-209795277-C-T
MyVariant Identifiers: chr1:g.209968622C>T (hg19) chr1:g.209795277C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209795277C>T , CM000663.2:g.209795277C>T GRCh38
NC_000001.10:g.209968622C>T , CM000663.1:g.209968622C>T GRCh37
NC_000001.9:g.208035245C>T NCBI36
NG_007081.2:g.15858G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.508+13G>A ENSP00000512426.1:n.508+13G>A
ENST00000696134.1:c.508+13G>A ENSP00000512427.1:n.508+13G>A
ENST00000367021.8:c.508+13G>A MANE Select ENSP00000355988.3:n.508+13G>A
ENST00000643798.1:c.508+13G>A ENSP00000496669.1:n.508+13G>A
ENST00000367021.7:c.508+13G>A ENSP00000355988.3:n.508+13G>A
ENST00000456314.1:c.508+13G>A ENSP00000403855.1:n.508+13G>A
ENST00000542854.5:c.223+13G>A ENSP00000440532.1:n.223+13G>A
NM_001206696.1:c.223+13G>A NP_001193625.1:n.223+13G>A
NM_006147.3:c.508+13G>A NP_006138.1:n.508+13G>A
NM_006147.4:c.508+13G>A MANE Select NP_006138.1:n.508+13G>A
NM_001206696.2:c.223+13G>A NP_001193625.1:n.223+13G>A
Search 100 bp 5'
Search 100 bp 3'