Canonical Allele Identifier: CA137302662
Community Standard Title: NM_021922.3(FANCE):c.1509+1G>A
Gene: FANCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35462915G>A , CM000668.2:g.35462915G>A GRCh38
NC_000006.11:g.35430692G>A , CM000668.1:g.35430692G>A GRCh37
NC_000006.10:g.35538670G>A NCBI36
NG_011708.1:g.15555G>A , LRG_498:g.15555G>A

Transcript Alleles

HGVS Amino-acid Change
NM_021922.3:c.1509+1G>A MANE Select NP_068741.1:n.1509+1G>A
ENST00000229769.3:c.1509+1G>A MANE Select ENSP00000229769.2:n.1509+1G>A
NM_021922.2:c.1509+1G>A , LRG_498t1:c.1509+1G>A NP_068741.1:n.1509+1G>A
ENST00000229769.2:c.1509+1G>A ENSP00000229769.2:n.1509+1G>A
ENST00000648059.1:c.1509+1G>A ENSP00000497902.1:n.1509+1G>A
ENST00000696264.1:c.1316+3155G>A ENSP00000512511.1:n.1316+3155G>A
ENST00000696265.1:c.1442+1G>A ENSP00000512512.1:n.1442+1G>A
ENST00000696266.1:c.1154+1G>A ENSP00000512513.1:n.1154+1G>A
ENST00000696267.1:n.1776+1G>A
ENST00000696269.1:n.1125+1G>A
XM_005248885.2:c.1488+1G>A XP_005248942.1:n.1488+1G>A
XM_005248886.2:c.1440+1G>A XP_005248943.1:n.1440+1G>A
XM_005248887.2:c.1383+2297G>A XP_005248944.1:n.1383+2297G>A
XM_005248888.2:c.1316+3155G>A XP_005248945.1:n.1316+3155G>A
XM_005248888.3:c.1316+3155G>A XP_005248945.1:n.1316+3155G>A
XM_011514343.1:c.1215+1G>A XP_011512645.1:n.1215+1G>A
XM_011514343.2:c.1215+1G>A XP_011512645.1:n.1215+1G>A
XM_011514344.1:c.1215+1G>A XP_011512646.1:n.1215+1G>A
XR_001743226.1:n.1649+1G>A
XR_002956267.1:n.1943+1G>A