Canonical Allele Identifier: CA380059187
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1436499
ClinVar RCV Id: RCV001987402 RCV002484673
dbSNP Id: rs201357673
gnomAD v2: 11-22646987-C-A
gnomAD v4: 11-22625441-C-A
MyVariant Identifiers: chr11:g.22646987C>A (hg19) chr11:g.22625441C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625441C>A , CM000673.2:g.22625441C>A GRCh38
NC_000011.9:g.22646987C>A , CM000673.1:g.22646987C>A GRCh37
NC_000011.8:g.22603563C>A NCBI36
NG_007425.1:g.5401G>T , LRG_527:g.5401G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.370G>T MANE Select ENSP00000330875.3:p.Ala124Ser
ENST00000327470.4:c.370G>T ENSP00000330875.3:p.Ala124Ser
NM_022725.3:c.370G>T , LRG_527t1:c.370G>T NP_073562.1:p.Ala124Ser
NM_022725.4:c.370G>T MANE Select NP_073562.1:p.Ala124Ser
Search 100 bp 5'
Search 100 bp 3'