Canonical Allele Identifier: CA5924379
Gene: FANCF HGNC NCBI
GAS2 HGNC NCBI

Linked Data

dbSNP Id: rs763928544
ExAC: 11:22647057 G / C
gnomAD v2: 11-22647057-G-C
gnomAD v4: 11-22625511-G-C
MyVariant Identifiers: chr11:g.22647057G>C (hg19) chr11:g.22625511G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625511G>C , CM000673.2:g.22625511G>C GRCh38
NC_000011.9:g.22647057G>C , CM000673.1:g.22647057G>C GRCh37
NC_000011.8:g.22603633G>C NCBI36
NG_007425.1:g.5331C>G , LRG_527:g.5331C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.300C>G (FANCF) MANE Select ENSP00000330875.3:p.Asn100Lys
ENST00000648096.1:n.3G>C (GAS2)
ENST00000327470.4:c.300C>G (FANCF) ENSP00000330875.3:p.Asn100Lys
NM_022725.3:c.300C>G , LRG_527t1:c.300C>G (FANCF) NP_073562.1:p.Asn100Lys
NM_022725.4:c.300C>G (FANCF) MANE Select NP_073562.1:p.Asn100Lys
Search 100 bp 5'
Search 100 bp 3'