Canonical Allele Identifier: CA380059516

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625613C>A , CM000673.2:g.22625613C>A GRCh38
NC_000011.9:g.22647159C>A , CM000673.1:g.22647159C>A GRCh37
NC_000011.8:g.22603735C>A NCBI36
NG_007425.1:g.5229G>T , LRG_527:g.5229G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.198G>T (FANCF) MANE Select ENSP00000330875.3:p.Trp66Cys
ENST00000648096.1:n.105C>A (GAS2)
ENST00000327470.4:c.198G>T (FANCF) ENSP00000330875.3:p.Trp66Cys
NM_022725.3:c.198G>T , LRG_527t1:c.198G>T (FANCF) NP_073562.1:p.Trp66Cys
NM_022725.4:c.198G>T (FANCF) MANE Select NP_073562.1:p.Trp66Cys