Canonical Allele Identifier: CA5924250
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 241444
ClinVar RCV Id: RCV000227286 RCV000248205 RCV001093959 RCV001573004
dbSNP Id: rs36045913
ExAC: 11:22646532 C / T
gnomAD v2: 11-22646532-C-T
gnomAD v3: 11-22624986-C-T
gnomAD v4: 11-22624986-C-T
MyVariant Identifiers: chr11:g.22646532C>T (hg19) chr11:g.22624986C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624986C>T , CM000673.2:g.22624986C>T GRCh38
NC_000011.9:g.22646532C>T , CM000673.1:g.22646532C>T GRCh37
NC_000011.8:g.22603108C>T NCBI36
NG_007425.1:g.5856G>A , LRG_527:g.5856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.825G>A MANE Select ENSP00000330875.3:p.Leu275=
ENST00000327470.4:c.825G>A ENSP00000330875.3:p.Leu275=
NM_022725.3:c.825G>A , LRG_527t1:c.825G>A NP_073562.1:p.Leu275=
NM_022725.4:c.825G>A MANE Select NP_073562.1:p.Leu275=
Search 100 bp 5'
Search 100 bp 3'