Canonical Allele Identifier: CA3771462
Gene: FANCE HGNC NCBI

Linked Data

ClinVar Variation Id: 1327104
ClinVar RCV Id: RCV001788984
dbSNP Id: rs777849670
gnomAD v2: 6-35423937-G-A
gnomAD v3: 6-35456160-G-A
gnomAD v4: 6-35456160-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35456160G>A , CM000668.2:g.35456160G>A GRCh38
NC_000006.11:g.35423937G>A , CM000668.1:g.35423937G>A GRCh37
NC_000006.10:g.35531915G>A NCBI36
NG_011708.1:g.8800G>A , LRG_498:g.8800G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696264.1:c.662G>A ENSP00000512511.1:p.Arg221Gln
ENST00000696265.1:c.662G>A ENSP00000512512.1:p.Arg221Gln
ENST00000696266.1:c.380G>A ENSP00000512513.1:p.Arg127Gln
ENST00000696267.1:n.302G>A
ENST00000229769.3:c.662G>A MANE Select ENSP00000229769.2:p.Arg221Gln
ENST00000648059.1:c.662G>A ENSP00000497902.1:p.Arg221Gln
ENST00000229769.2:c.662G>A ENSP00000229769.2:p.Arg221Gln
NM_021922.2:c.662G>A , LRG_498t1:c.662G>A NP_068741.1:p.Arg221Gln
XM_005248885.2:c.662G>A XP_005248942.1:p.Arg221Gln
XM_005248886.2:c.662G>A XP_005248943.1:p.Arg221Gln
XM_005248887.2:c.662G>A XP_005248944.1:p.Arg221Gln
XM_005248888.2:c.662G>A XP_005248945.1:p.Arg221Gln
XM_011514343.1:c.368G>A XP_011512645.1:p.Arg123Gln
XM_011514344.1:c.368G>A XP_011512646.1:p.Arg123Gln
XM_005248888.3:c.662G>A XP_005248945.1:p.Arg221Gln
XM_011514343.2:c.368G>A XP_011512645.1:p.Arg123Gln
XR_001743226.1:n.869G>A
XR_002956267.1:n.869G>A
NM_021922.3:c.662G>A MANE Select NP_068741.1:p.Arg221Gln