Canonical Allele Identifier: CA5924292
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 414816
ClinVar RCV Id: RCV000462486
dbSNP Id: rs773556058
ExAC: 11:22646717 A / G
gnomAD v2: 11-22646717-A-G
gnomAD v3: 11-22625171-A-G
gnomAD v4: 11-22625171-A-G
MyVariant Identifiers: chr11:g.22646717A>G (hg19) chr11:g.22625171A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625171A>G , CM000673.2:g.22625171A>G GRCh38
NC_000011.9:g.22646717A>G , CM000673.1:g.22646717A>G GRCh37
NC_000011.8:g.22603293A>G NCBI36
NG_007425.1:g.5671T>C , LRG_527:g.5671T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.640T>C MANE Select ENSP00000330875.3:p.Leu214=
ENST00000327470.4:c.640T>C ENSP00000330875.3:p.Leu214=
NM_022725.3:c.640T>C , LRG_527t1:c.640T>C NP_073562.1:p.Leu214=
NM_022725.4:c.640T>C MANE Select NP_073562.1:p.Leu214=
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Search 100 bp 3'