Canonical Allele Identifier: CA5924330

Gene: FANCF

Linked Data

• ClinVar Variation Id: 408148
• ClinVar RCV Id: RCV000457751 ; RCV002506120
• dbSNP Id: rs377309460
• ExAC: 11:22646911 T / C
• gnomAD v2: 11-22646911-T-C
• gnomAD v3: 11-22625365-T-C
• gnomAD v4: 11-22625365-T-C
• MyVariant Identifiers: chr11:g.22646911T>C (hg19) ; chr11:g.22625365T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625365T>C , CM000673.2:g.22625365T>C	GRCh38
NC_000011.9:g.22646911T>C , CM000673.1:g.22646911T>C	GRCh37
NC_000011.8:g.22603487T>C	NCBI36
NG_007425.1:g.5477A>G , LRG_527:g.5477A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.446A>G MANE Select	ENSP00000330875.3:p.Asn149Ser
ENST00000327470.4:c.446A>G	ENSP00000330875.3:p.Asn149Ser
NM_022725.3:c.446A>G , LRG_527t1:c.446A>G	NP_073562.1:p.Asn149Ser
NM_022725.4:c.446A>G MANE Select	NP_073562.1:p.Asn149Ser