Canonical Allele Identifier: CA5924358
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 970279
ClinVar RCV Id: RCV001245827 RCV002484370
dbSNP Id: rs759470099
ExAC: 11:22646993 G / C
gnomAD v2: 11-22646993-G-C
gnomAD v3: 11-22625447-G-C
gnomAD v4: 11-22625447-G-C
MyVariant Identifiers: chr11:g.22646993G>C (hg19) chr11:g.22625447G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625447G>C , CM000673.2:g.22625447G>C GRCh38
NC_000011.9:g.22646993G>C , CM000673.1:g.22646993G>C GRCh37
NC_000011.8:g.22603569G>C NCBI36
NG_007425.1:g.5395C>G , LRG_527:g.5395C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.364C>G MANE Select ENSP00000330875.3:p.Arg122Gly
ENST00000327470.4:c.364C>G ENSP00000330875.3:p.Arg122Gly
NM_022725.3:c.364C>G , LRG_527t1:c.364C>G NP_073562.1:p.Arg122Gly
NM_022725.4:c.364C>G MANE Select NP_073562.1:p.Arg122Gly
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