Canonical Allele Identifier: CA1620905578
Gene: FANCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35456146C= , CM000668.2:g.35456146C= GRCh38
NC_000006.11:g.35423923C= , CM000668.1:g.35423923C= GRCh37
NC_000006.10:g.35531901C= NCBI36
NG_011708.1:g.8786C= , LRG_498:g.8786C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696264.1:c.648C= ENSP00000512511.1:p.Val216=
ENST00000696265.1:c.648C= ENSP00000512512.1:p.Val216=
ENST00000696266.1:c.366C= ENSP00000512513.1:p.Val122=
ENST00000696267.1:n.288C=
ENST00000229769.3:c.648C= MANE Select ENSP00000229769.2:p.Val216=
ENST00000648059.1:c.648C= ENSP00000497902.1:p.Val216=
ENST00000229769.2:c.648C= ENSP00000229769.2:p.Val216=
NM_021922.2:c.648C= , LRG_498t1:c.648C= NP_068741.1:p.Val216=
XM_005248885.2:c.648C= XP_005248942.1:p.Val216=
XM_005248886.2:c.648C= XP_005248943.1:p.Val216=
XM_005248887.2:c.648C= XP_005248944.1:p.Val216=
XM_005248888.2:c.648C= XP_005248945.1:p.Val216=
XM_011514343.1:c.354C= XP_011512645.1:p.Val118=
XM_011514344.1:c.354C= XP_011512646.1:p.Val118=
XM_005248888.3:c.648C= XP_005248945.1:p.Val216=
XM_011514343.2:c.354C= XP_011512645.1:p.Val118=
XR_001743226.1:n.855C=
XR_002956267.1:n.855C=
NM_021922.3:c.648C= MANE Select NP_068741.1:p.Val216=