Canonical Allele Identifier: CA5924407
Gene: FANCF HGNC NCBI
GAS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1417344
ClinVar RCV Id: RCV001938301
dbSNP Id: rs756433846
ExAC: 11:22647166 T / C
gnomAD v2: 11-22647166-T-C
gnomAD v4: 11-22625620-T-C
MyVariant Identifiers: chr11:g.22647166T>C (hg19) chr11:g.22625620T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625620T>C , CM000673.2:g.22625620T>C GRCh38
NC_000011.9:g.22647166T>C , CM000673.1:g.22647166T>C GRCh37
NC_000011.8:g.22603742T>C NCBI36
NG_007425.1:g.5222A>G , LRG_527:g.5222A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327470.6:c.191A>G (FANCF) MANE Select ENSP00000330875.3:p.Asn64Ser
ENST00000648096.1:n.112T>C (GAS2)
ENST00000327470.4:c.191A>G (FANCF) ENSP00000330875.3:p.Asn64Ser
NM_022725.3:c.191A>G , LRG_527t1:c.191A>G (FANCF) NP_073562.1:p.Asn64Ser
NM_022725.4:c.191A>G (FANCF) MANE Select NP_073562.1:p.Asn64Ser
Search 100 bp 5'
Search 100 bp 3'