Canonical Allele Identifier: CA380059212
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2357428
ClinVar RCV Id: RCV002969801
dbSNP Id: rs1858630702
gnomAD v4: 11-22625456-G-C
MyVariant Identifiers: chr11:g.22647002G>C (hg19) chr11:g.22625456G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625456G>C , CM000673.2:g.22625456G>C GRCh38
NC_000011.9:g.22647002G>C , CM000673.1:g.22647002G>C GRCh37
NC_000011.8:g.22603578G>C NCBI36
NG_007425.1:g.5386C>G , LRG_527:g.5386C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.355C>G MANE Select ENSP00000330875.3:p.Pro119Ala
ENST00000327470.4:c.355C>G ENSP00000330875.3:p.Pro119Ala
NM_022725.3:c.355C>G , LRG_527t1:c.355C>G NP_073562.1:p.Pro119Ala
NM_022725.4:c.355C>G MANE Select NP_073562.1:p.Pro119Ala
Search 100 bp 5'
Search 100 bp 3'