Canonical Allele Identifier: CA380060184
Community Standard Title: NM_022725.4(FANCF):c.3G>A (p.Met1Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625808C>T , CM000673.2:g.22625808C>T GRCh38
NC_000011.9:g.22647354C>T , CM000673.1:g.22647354C>T GRCh37
NC_000011.8:g.22603930C>T NCBI36
NG_007425.1:g.5034G>A , LRG_527:g.5034G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022725.4:c.3G>A (FANCF) MANE Select NP_073562.1:p.Met1Ile
ENST00000327470.6:c.3G>A (FANCF) MANE Select ENSP00000330875.3:p.Met1Ile
NM_022725.3:c.3G>A , LRG_527t1:c.3G>A (FANCF) NP_073562.1:p.Met1Ile
ENST00000327470.4:c.3G>A (FANCF) ENSP00000330875.3:p.Met1Ile
ENST00000528582.5:c.-26C>T (GAS2) ENSP00000432584.1:n.-26C>T
ENST00000648096.1:n.300C>T (GAS2)