Canonical Allele Identifier: CA5924331

Gene: FANCF

Linked Data

• ClinVar Variation Id: 304203
• ClinVar RCV Id: RCV000285884 ; RCV001850617 ; RCV003488515
• dbSNP Id: rs779428484
• ExAC: 11:22646921 G / C
• gnomAD v2: 11-22646921-G-C
• gnomAD v4: 11-22625375-G-C
• MyVariant Identifiers: chr11:g.22646921G>C (hg19) ; chr11:g.22625375G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625375G>C , CM000673.2:g.22625375G>C	GRCh38
NC_000011.9:g.22646921G>C , CM000673.1:g.22646921G>C	GRCh37
NC_000011.8:g.22603497G>C	NCBI36
NG_007425.1:g.5467C>G , LRG_527:g.5467C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.436C>G MANE Select	ENSP00000330875.3:p.Leu146Val
ENST00000327470.4:c.436C>G	ENSP00000330875.3:p.Leu146Val
NM_022725.3:c.436C>G , LRG_527t1:c.436C>G	NP_073562.1:p.Leu146Val
NM_022725.4:c.436C>G MANE Select	NP_073562.1:p.Leu146Val