Canonical Allele Identifier: CA5924232

Gene: FANCF

Linked Data

• ClinVar Variation Id: 964280
• ClinVar RCV Id: RCV001238473 ; RCV001788429
• dbSNP Id: rs372140217
• ExAC: 11:22646446 C / G
• gnomAD v2: 11-22646446-C-G
• gnomAD v3: 11-22624900-C-G
• gnomAD v4: 11-22624900-C-G
• MyVariant Identifiers: chr11:g.22646446C>G (hg19) ; chr11:g.22624900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22624900C>G , CM000673.2:g.22624900C>G	GRCh38
NC_000011.9:g.22646446C>G , CM000673.1:g.22646446C>G	GRCh37
NC_000011.8:g.22603022C>G	NCBI36
NG_007425.1:g.5942G>C , LRG_527:g.5942G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.911G>C MANE Select	ENSP00000330875.3:p.Trp304Ser
ENST00000327470.4:c.911G>C	ENSP00000330875.3:p.Trp304Ser
NM_022725.3:c.911G>C , LRG_527t1:c.911G>C	NP_073562.1:p.Trp304Ser
NM_022725.4:c.911G>C MANE Select	NP_073562.1:p.Trp304Ser