Canonical Allele Identifier: CA5924242

Gene: FANCF

Linked Data

• ClinVar Variation Id: 304201
• ClinVar RCV Id: RCV000316837 ; RCV003488514 ; RCV001093958
• dbSNP Id: rs750623273
• ExAC: 11:22646497 T / C
• gnomAD v2: 11-22646497-T-C
• gnomAD v3: 11-22624951-T-C
• gnomAD v4: 11-22624951-T-C
• MyVariant Identifiers: chr11:g.22646497T>C (hg19) ; chr11:g.22624951T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22624951T>C , CM000673.2:g.22624951T>C	GRCh38
NC_000011.9:g.22646497T>C , CM000673.1:g.22646497T>C	GRCh37
NC_000011.8:g.22603073T>C	NCBI36
NG_007425.1:g.5891A>G , LRG_527:g.5891A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.860A>G MANE Select	ENSP00000330875.3:p.Tyr287Cys
ENST00000327470.4:c.860A>G	ENSP00000330875.3:p.Tyr287Cys
NM_022725.3:c.860A>G , LRG_527t1:c.860A>G	NP_073562.1:p.Tyr287Cys
NM_022725.4:c.860A>G MANE Select	NP_073562.1:p.Tyr287Cys