Canonical Allele Identifier: CA380059709

Linked Data

ClinVar Variation Id: 1380511
ClinVar RCV Id: RCV001892288
dbSNP Id: rs2133798673

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625713C>T , CM000673.2:g.22625713C>T GRCh38
NC_000011.9:g.22647259C>T , CM000673.1:g.22647259C>T GRCh37
NC_000011.8:g.22603835C>T NCBI36
NG_007425.1:g.5129G>A , LRG_527:g.5129G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.98G>A (FANCF) MANE Select ENSP00000330875.3:p.Arg33Gln
ENST00000648096.1:n.205C>T (GAS2)
ENST00000327470.4:c.98G>A (FANCF) ENSP00000330875.3:p.Arg33Gln
ENST00000528582.5:c.-121C>T (GAS2) ENSP00000432584.1:n.-121C>T
NM_022725.3:c.98G>A , LRG_527t1:c.98G>A (FANCF) NP_073562.1:p.Arg33Gln
NM_022725.4:c.98G>A (FANCF) MANE Select NP_073562.1:p.Arg33Gln