Canonical Allele Identifier: CA449942334
Gene: FANCE HGNC NCBI

Linked Data

dbSNP Id: rs1256713327
gnomAD v2: 6-35423596-A-G
gnomAD v4: 6-35455819-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35455819A>G , CM000668.2:g.35455819A>G GRCh38
NC_000006.11:g.35423596A>G , CM000668.1:g.35423596A>G GRCh37
NC_000006.10:g.35531574A>G NCBI36
NG_011708.1:g.8459A>G , LRG_498:g.8459A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696264.1:c.321A>G ENSP00000512511.1:p.Pro107=
ENST00000696265.1:c.321A>G ENSP00000512512.1:p.Pro107=
ENST00000696266.1:c.39A>G ENSP00000512513.1:p.Pro13=
ENST00000229769.3:c.321A>G MANE Select ENSP00000229769.2:p.Pro107=
ENST00000648059.1:c.321A>G ENSP00000497902.1:p.Pro107=
ENST00000229769.2:c.321A>G ENSP00000229769.2:p.Pro107=
NM_021922.2:c.321A>G , LRG_498t1:c.321A>G NP_068741.1:p.Pro107=
XM_005248885.2:c.321A>G XP_005248942.1:p.Pro107=
XM_005248886.2:c.321A>G XP_005248943.1:p.Pro107=
XM_005248887.2:c.321A>G XP_005248944.1:p.Pro107=
XM_005248888.2:c.321A>G XP_005248945.1:p.Pro107=
XM_011514343.1:c.27A>G XP_011512645.1:p.Pro9=
XM_011514344.1:c.27A>G XP_011512646.1:p.Pro9=
XM_005248888.3:c.321A>G XP_005248945.1:p.Pro107=
XM_011514343.2:c.27A>G XP_011512645.1:p.Pro9=
XR_001743226.1:n.528A>G
XR_002956267.1:n.528A>G
NM_021922.3:c.321A>G MANE Select NP_068741.1:p.Pro107=