Canonical Allele Identifier: CA159566
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 134348
ClinVar RCV Id: RCV000121022 RCV000395772 RCV000421185 RCV000764968
dbSNP Id: rs61753271
ExAC: 11:22646972 G / C
gnomAD v2: 11-22646972-G-C
gnomAD v3: 11-22625426-G-C
gnomAD v4: 11-22625426-G-C
MyVariant Identifiers: chr11:g.22646972G>C (hg19) chr11:g.22625426G>C (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625426G>C , CM000673.2:g.22625426G>C GRCh38
NC_000011.9:g.22646972G>C , CM000673.1:g.22646972G>C GRCh37
NC_000011.8:g.22603548G>C NCBI36
NG_007425.1:g.5416C>G , LRG_527:g.5416C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.385C>G MANE Select ENSP00000330875.3:p.Leu129Val
ENST00000327470.4:c.385C>G ENSP00000330875.3:p.Leu129Val
NM_022725.3:c.385C>G , LRG_527t1:c.385C>G NP_073562.1:p.Leu129Val
NM_022725.4:c.385C>G MANE Select NP_073562.1:p.Leu129Val
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