Canonical Allele Identifier: CA253843

Gene: FANCF

Linked Data

• ClinVar Variation Id: 6341
• ClinVar RCV Id: RCV000006713 ; RCV001233686
• dbSNP Id: rs730880278
• ExAC: 11:22646959 AGGCTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCG / A
• gnomAD v2: 11-22646959-AGGCTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCG-A
• gnomAD v3: 11-22625413-AGGCTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCG-A
• gnomAD v4: 11-22625413-AGGCTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCG-A
• MyVariant Identifiers: chr11:g.22646962_22647008del (hg19) ; chr11:g.22646960_22647006del (hg19) ; chr11:g.22625416_22625462del (hg38) ; chr11:g.22625414_22625460del (hg38)
• PubMed: PMID:9382107 ; PMID:10615118

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625416_22625462del , CM000673.2:g.22625416_22625462del	GRCh38
NC_000011.9:g.22646962_22647008del , CM000673.1:g.22646962_22647008del	GRCh37
NC_000011.8:g.22603538_22603584del	NCBI36
NG_007425.1:g.5382_5428del , LRG_527:g.5382_5428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.351_397del MANE Select	ENSP00000330875.3:p.Gly120ProfsTer17
ENST00000327470.4:c.351_397del	ENSP00000330875.3:p.Gly120ProfsTer17
NM_022725.3:c.351_397del , LRG_527t1:c.351_397del	NP_073562.1:p.Gly120ProfsTer17
NM_022725.4:c.351_397del MANE Select	NP_073562.1:p.Gly120ProfsTer17