Canonical Allele Identifier: CA5924242
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 304201
ClinVar RCV Id: RCV000316837 RCV003488514 RCV001093958
dbSNP Id: rs750623273
ExAC: 11:22646497 T / C
gnomAD v2: 11-22646497-T-C
gnomAD v3: 11-22624951-T-C
gnomAD v4: 11-22624951-T-C
MyVariant Identifiers: chr11:g.22646497T>C (hg19) chr11:g.22624951T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624951T>C , CM000673.2:g.22624951T>C GRCh38
NC_000011.9:g.22646497T>C , CM000673.1:g.22646497T>C GRCh37
NC_000011.8:g.22603073T>C NCBI36
NG_007425.1:g.5891A>G , LRG_527:g.5891A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.860A>G MANE Select ENSP00000330875.3:p.Tyr287Cys
ENST00000327470.4:c.860A>G ENSP00000330875.3:p.Tyr287Cys
NM_022725.3:c.860A>G , LRG_527t1:c.860A>G NP_073562.1:p.Tyr287Cys
NM_022725.4:c.860A>G MANE Select NP_073562.1:p.Tyr287Cys
Search 100 bp 5'
Search 100 bp 3'