Canonical Allele Identifier: CA1957606959
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1334027
ClinVar RCV Id: RCV001809242
dbSNP Id: rs1858619779
gnomAD v4: 11-22624990-TAGAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624993_22624996del , CM000673.2:g.22624993_22624996del GRCh38
NC_000011.9:g.22646539_22646542del , CM000673.1:g.22646539_22646542del GRCh37
NC_000011.8:g.22603115_22603118del NCBI36
NG_007425.1:g.5848_5851del , LRG_527:g.5848_5851del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.817_820del MANE Select ENSP00000330875.3:p.Val273IlefsTer5
ENST00000327470.4:c.817_820del ENSP00000330875.3:p.Val273IlefsTer5
NM_022725.3:c.817_820del , LRG_527t1:c.817_820del NP_073562.1:p.Val273IlefsTer5
NM_022725.4:c.817_820del MANE Select NP_073562.1:p.Val273IlefsTer5
Search 100 bp 5'
Search 100 bp 3'