Canonical Allele Identifier: CA5924245
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2891400
ClinVar RCV Id: RCV003636459
dbSNP Id: rs368940253
ExAC: 11:22646500 T / G
gnomAD v2: 11-22646500-T-G
gnomAD v3: 11-22624954-T-G
gnomAD v4: 11-22624954-T-G
MyVariant Identifiers: chr11:g.22646500T>G (hg19) chr11:g.22624954T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624954T>G , CM000673.2:g.22624954T>G GRCh38
NC_000011.9:g.22646500T>G , CM000673.1:g.22646500T>G GRCh37
NC_000011.8:g.22603076T>G NCBI36
NG_007425.1:g.5888A>C , LRG_527:g.5888A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.857A>C MANE Select ENSP00000330875.3:p.His286Pro
ENST00000327470.4:c.857A>C ENSP00000330875.3:p.His286Pro
NM_022725.3:c.857A>C , LRG_527t1:c.857A>C NP_073562.1:p.His286Pro
NM_022725.4:c.857A>C MANE Select NP_073562.1:p.His286Pro
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