Canonical Allele Identifier: CA380059313

Linked Data

ClinVar Variation Id: 843804
ClinVar RCV Id: RCV001046502
dbSNP Id: rs760571335

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625510G>C , CM000673.2:g.22625510G>C GRCh38
NC_000011.9:g.22647056G>C , CM000673.1:g.22647056G>C GRCh37
NC_000011.8:g.22603632G>C NCBI36
NG_007425.1:g.5332C>G , LRG_527:g.5332C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.301C>G (FANCF) MANE Select ENSP00000330875.3:p.Arg101Gly
ENST00000648096.1:n.2G>C (GAS2)
ENST00000327470.4:c.301C>G (FANCF) ENSP00000330875.3:p.Arg101Gly
NM_022725.3:c.301C>G , LRG_527t1:c.301C>G (FANCF) NP_073562.1:p.Arg101Gly
NM_022725.4:c.301C>G (FANCF) MANE Select NP_073562.1:p.Arg101Gly