Canonical Allele Identifier: CA380058164
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1406386
ClinVar RCV Id: RCV001906892
dbSNP Id: rs2133796621
gnomAD v4: 11-22624942-T-G
MyVariant Identifiers: chr11:g.22646488T>G (hg19) chr11:g.22624942T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624942T>G , CM000673.2:g.22624942T>G GRCh38
NC_000011.9:g.22646488T>G , CM000673.1:g.22646488T>G GRCh37
NC_000011.8:g.22603064T>G NCBI36
NG_007425.1:g.5900A>C , LRG_527:g.5900A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.869A>C MANE Select ENSP00000330875.3:p.Gln290Pro
ENST00000327470.4:c.869A>C ENSP00000330875.3:p.Gln290Pro
NM_022725.3:c.869A>C , LRG_527t1:c.869A>C NP_073562.1:p.Gln290Pro
NM_022725.4:c.869A>C MANE Select NP_073562.1:p.Gln290Pro
Search 100 bp 5'
Search 100 bp 3'