Canonical Allele Identifier: CA5924369
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 964253
ClinVar RCV Id: RCV001238441 RCV001819936 RCV002491774
dbSNP Id: rs373385251
ExAC: 11:22647025 A / G
gnomAD v2: 11-22647025-A-G
gnomAD v3: 11-22625479-A-G
gnomAD v4: 11-22625479-A-G
MyVariant Identifiers: chr11:g.22647025A>G (hg19) chr11:g.22625479A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625479A>G , CM000673.2:g.22625479A>G GRCh38
NC_000011.9:g.22647025A>G , CM000673.1:g.22647025A>G GRCh37
NC_000011.8:g.22603601A>G NCBI36
NG_007425.1:g.5363T>C , LRG_527:g.5363T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.332T>C MANE Select ENSP00000330875.3:p.Leu111Pro
ENST00000327470.4:c.332T>C ENSP00000330875.3:p.Leu111Pro
NM_022725.3:c.332T>C , LRG_527t1:c.332T>C NP_073562.1:p.Leu111Pro
NM_022725.4:c.332T>C MANE Select NP_073562.1:p.Leu111Pro
Search 100 bp 5'
Search 100 bp 3'