Canonical Allele Identifier: CA5924315

Gene: FANCF

Linked Data

• ClinVar Variation Id: 435151
• ClinVar RCV Id: RCV000500151
• dbSNP Id: rs775816396
• ExAC: 11:22646828 C / T
• gnomAD v2: 11-22646828-C-T
• MyVariant Identifiers: chr11:g.22646828C>T (hg19) ; chr11:g.22625282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625282C>T , CM000673.2:g.22625282C>T	GRCh38
NC_000011.9:g.22646828C>T , CM000673.1:g.22646828C>T	GRCh37
NC_000011.8:g.22603404C>T	NCBI36
NG_007425.1:g.5560G>A , LRG_527:g.5560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.529G>A MANE Select	ENSP00000330875.3:p.Val177Met
ENST00000327470.4:c.529G>A	ENSP00000330875.3:p.Val177Met
NM_022725.3:c.529G>A , LRG_527t1:c.529G>A	NP_073562.1:p.Val177Met
NM_022725.4:c.529G>A MANE Select	NP_073562.1:p.Val177Met