Canonical Allele Identifier: CA5924358

Gene: FANCF

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)

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