Canonical Allele Identifier: CA159581
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 134354
ClinVar RCV Id: RCV000121028 RCV000232655 RCV000857633 RCV001094015
dbSNP Id: rs61752920
ExAC: 11:22646984 C / T
gnomAD v2: 11-22646984-C-T
gnomAD v3: 11-22625438-C-T
gnomAD v4: 11-22625438-C-T
MyVariant Identifiers: chr11:g.22646984C>T (hg19) chr11:g.22625438C>T (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625438C>T , CM000673.2:g.22625438C>T GRCh38
NC_000011.9:g.22646984C>T , CM000673.1:g.22646984C>T GRCh37
NC_000011.8:g.22603560C>T NCBI36
NG_007425.1:g.5404G>A , LRG_527:g.5404G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.373G>A MANE Select ENSP00000330875.3:p.Asp125Asn
ENST00000327470.4:c.373G>A ENSP00000330875.3:p.Asp125Asn
NM_022725.3:c.373G>A , LRG_527t1:c.373G>A NP_073562.1:p.Asp125Asn
NM_022725.4:c.373G>A MANE Select NP_073562.1:p.Asp125Asn
Search 100 bp 5'
Search 100 bp 3'