Canonical Allele Identifier: CA5924274
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 966413
ClinVar RCV Id: RCV001241085
dbSNP Id: rs762305649
ExAC: 11:22646668 G / C
gnomAD v2: 11-22646668-G-C
gnomAD v4: 11-22625122-G-C
MyVariant Identifiers: chr11:g.22646668G>C (hg19) chr11:g.22625122G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625122G>C , CM000673.2:g.22625122G>C GRCh38
NC_000011.9:g.22646668G>C , CM000673.1:g.22646668G>C GRCh37
NC_000011.8:g.22603244G>C NCBI36
NG_007425.1:g.5720C>G , LRG_527:g.5720C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.689C>G MANE Select ENSP00000330875.3:p.Pro230Arg
ENST00000327470.4:c.689C>G ENSP00000330875.3:p.Pro230Arg
NM_022725.3:c.689C>G , LRG_527t1:c.689C>G NP_073562.1:p.Pro230Arg
NM_022725.4:c.689C>G MANE Select NP_073562.1:p.Pro230Arg
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