Canonical Allele Identifier: CA380059519

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625614C>A , CM000673.2:g.22625614C>A GRCh38
NC_000011.9:g.22647160C>A , CM000673.1:g.22647160C>A GRCh37
NC_000011.8:g.22603736C>A NCBI36
NG_007425.1:g.5228G>T , LRG_527:g.5228G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.197G>T (FANCF) MANE Select ENSP00000330875.3:p.Trp66Leu
ENST00000648096.1:n.106C>A (GAS2)
ENST00000327470.4:c.197G>T (FANCF) ENSP00000330875.3:p.Trp66Leu
NM_022725.3:c.197G>T , LRG_527t1:c.197G>T (FANCF) NP_073562.1:p.Trp66Leu
NM_022725.4:c.197G>T (FANCF) MANE Select NP_073562.1:p.Trp66Leu