Canonical Allele Identifier: CA380058170
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1409289
ClinVar RCV Id: RCV001930346
dbSNP Id: rs1177443868
gnomAD v4: 11-22624945-A-G
MyVariant Identifiers: chr11:g.22646491A>G (hg19) chr11:g.22624945A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624945A>G , CM000673.2:g.22624945A>G GRCh38
NC_000011.9:g.22646491A>G , CM000673.1:g.22646491A>G GRCh37
NC_000011.8:g.22603067A>G NCBI36
NG_007425.1:g.5897T>C , LRG_527:g.5897T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.866T>C MANE Select ENSP00000330875.3:p.Leu289Pro
ENST00000327470.4:c.866T>C ENSP00000330875.3:p.Leu289Pro
NM_022725.3:c.866T>C , LRG_527t1:c.866T>C NP_073562.1:p.Leu289Pro
NM_022725.4:c.866T>C MANE Select NP_073562.1:p.Leu289Pro
Search 100 bp 5'
Search 100 bp 3'