Canonical Allele Identifier: CA10638238

Linked Data

ClinVar Variation Id: 304209
dbSNP Id: rs745495865

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625809A>G , CM000673.2:g.22625809A>G GRCh38
NC_000011.9:g.22647355A>G , CM000673.1:g.22647355A>G GRCh37
NC_000011.8:g.22603931A>G NCBI36
NG_007425.1:g.5033T>C , LRG_527:g.5033T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.2T>C (FANCF) MANE Select ENSP00000330875.3:p.Met1Thr
ENST00000648096.1:n.301A>G (GAS2)
ENST00000327470.4:c.2T>C (FANCF) ENSP00000330875.3:p.Met1Thr
ENST00000528582.5:c.-25A>G (GAS2) ENSP00000432584.1:n.-25A>G
NM_022725.3:c.2T>C , LRG_527t1:c.2T>C (FANCF) NP_073562.1:p.Met1Thr
NM_022725.4:c.2T>C (FANCF) MANE Select NP_073562.1:p.Met1Thr