Canonical Allele Identifier: CA5924375

Gene: FANCF

Linked Data

• dbSNP Id: rs749311845
• ExAC: 11:22647038 C / G
• gnomAD v2: 11-22647038-C-G
• gnomAD v3: 11-22625492-C-G
• gnomAD v4: 11-22625492-C-G
• MyVariant Identifiers: chr11:g.22647038C>G (hg19) ; chr11:g.22625492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625492C>G , CM000673.2:g.22625492C>G	GRCh38
NC_000011.9:g.22647038C>G , CM000673.1:g.22647038C>G	GRCh37
NC_000011.8:g.22603614C>G	NCBI36
NG_007425.1:g.5350G>C , LRG_527:g.5350G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.319G>C MANE Select	ENSP00000330875.3:p.Ala107Pro
ENST00000327470.4:c.319G>C	ENSP00000330875.3:p.Ala107Pro
NM_022725.3:c.319G>C , LRG_527t1:c.319G>C	NP_073562.1:p.Ala107Pro
NM_022725.4:c.319G>C MANE Select	NP_073562.1:p.Ala107Pro