Canonical Allele Identifier: CA5924339

Gene: FANCF

Linked Data

• ClinVar Variation Id: 701972
• ClinVar RCV Id: RCV000870754 ; RCV001817000
• dbSNP Id: rs565372884
• ExAC: 11:22646945 G / T
• gnomAD v2: 11-22646945-G-T
• gnomAD v3: 11-22625399-G-T
• gnomAD v4: 11-22625399-G-T
• MyVariant Identifiers: chr11:g.22646945G>T (hg19) ; chr11:g.22625399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625399G>T , CM000673.2:g.22625399G>T	GRCh38
NC_000011.9:g.22646945G>T , CM000673.1:g.22646945G>T	GRCh37
NC_000011.8:g.22603521G>T	NCBI36
NG_007425.1:g.5443C>A , LRG_527:g.5443C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.412C>A MANE Select	ENSP00000330875.3:p.Arg138Ser
ENST00000327470.4:c.412C>A	ENSP00000330875.3:p.Arg138Ser
NM_022725.3:c.412C>A , LRG_527t1:c.412C>A	NP_073562.1:p.Arg138Ser
NM_022725.4:c.412C>A MANE Select	NP_073562.1:p.Arg138Ser