Canonical Allele Identifier: CA5924240
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 695885
ClinVar RCV Id: RCV000861878 RCV001816933
dbSNP Id: rs757578045
ExAC: 11:22646484 T / C
gnomAD v2: 11-22646484-T-C
gnomAD v3: 11-22624938-T-C
gnomAD v4: 11-22624938-T-C
MyVariant Identifiers: chr11:g.22646484T>C (hg19) chr11:g.22624938T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624938T>C , CM000673.2:g.22624938T>C GRCh38
NC_000011.9:g.22646484T>C , CM000673.1:g.22646484T>C GRCh37
NC_000011.8:g.22603060T>C NCBI36
NG_007425.1:g.5904A>G , LRG_527:g.5904A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.873A>G MANE Select ENSP00000330875.3:p.Lys291=
ENST00000327470.4:c.873A>G ENSP00000330875.3:p.Lys291=
NM_022725.3:c.873A>G , LRG_527t1:c.873A>G NP_073562.1:p.Lys291=
NM_022725.4:c.873A>G MANE Select NP_073562.1:p.Lys291=
Search 100 bp 5'
Search 100 bp 3'