Canonical Allele Identifier: CA5924324

Gene: FANCF

Linked Data

• ClinVar Variation Id: 1319636
• ClinVar RCV Id: RCV001885116 ; RCV003237629
• dbSNP Id: rs370979205
• ExAC: 11:22646891 T / C
• gnomAD v2: 11-22646891-T-C
• gnomAD v3: 11-22625345-T-C
• gnomAD v4: 11-22625345-T-C
• MyVariant Identifiers: chr11:g.22646891T>C (hg19) ; chr11:g.22625345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625345T>C , CM000673.2:g.22625345T>C	GRCh38
NC_000011.9:g.22646891T>C , CM000673.1:g.22646891T>C	GRCh37
NC_000011.8:g.22603467T>C	NCBI36
NG_007425.1:g.5497A>G , LRG_527:g.5497A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.466A>G MANE Select	ENSP00000330875.3:p.Asn156Asp
ENST00000327470.4:c.466A>G	ENSP00000330875.3:p.Asn156Asp
NM_022725.3:c.466A>G , LRG_527t1:c.466A>G	NP_073562.1:p.Asn156Asp
NM_022725.4:c.466A>G MANE Select	NP_073562.1:p.Asn156Asp