Canonical Allele Identifier: CA5924247
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1980767
ClinVar RCV Id: RCV002761587
dbSNP Id: rs768798175
ExAC: 11:22646506 C / G
gnomAD v2: 11-22646506-C-G
gnomAD v4: 11-22624960-C-G
MyVariant Identifiers: chr11:g.22646506C>G (hg19) chr11:g.22624960C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624960C>G , CM000673.2:g.22624960C>G GRCh38
NC_000011.9:g.22646506C>G , CM000673.1:g.22646506C>G GRCh37
NC_000011.8:g.22603082C>G NCBI36
NG_007425.1:g.5882G>C , LRG_527:g.5882G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.851G>C MANE Select ENSP00000330875.3:p.Arg284Pro
ENST00000327470.4:c.851G>C ENSP00000330875.3:p.Arg284Pro
NM_022725.3:c.851G>C , LRG_527t1:c.851G>C NP_073562.1:p.Arg284Pro
NM_022725.4:c.851G>C MANE Select NP_073562.1:p.Arg284Pro
Search 100 bp 5'
Search 100 bp 3'