Canonical Allele Identifier: CA473533651
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1588637
ClinVar RCV Id: RCV002098362
dbSNP Id: rs1318651729
gnomAD v2: 11-22646979-C-T
gnomAD v4: 11-22625433-C-T
MyVariant Identifiers: chr11:g.22646979C>T (hg19) chr11:g.22625433C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625433C>T , CM000673.2:g.22625433C>T GRCh38
NC_000011.9:g.22646979C>T , CM000673.1:g.22646979C>T GRCh37
NC_000011.8:g.22603555C>T NCBI36
NG_007425.1:g.5409G>A , LRG_527:g.5409G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.378G>A MANE Select ENSP00000330875.3:p.Glu126=
ENST00000327470.4:c.378G>A ENSP00000330875.3:p.Glu126=
NM_022725.3:c.378G>A , LRG_527t1:c.378G>A NP_073562.1:p.Glu126=
NM_022725.4:c.378G>A MANE Select NP_073562.1:p.Glu126=
Search 100 bp 5'
Search 100 bp 3'