Canonical Allele Identifier: CA16622023

Gene: FANCE

Linked Data

• ClinVar Variation Id: 1433588
• ClinVar RCV Id: RCV001946093
• dbSNP Id: rs370659315
• gnomAD v3: 6-35456150-A-G
• gnomAD v4: 6-35456150-A-G
• MyVariant Identifiers: chr6:g.35423927A>G (hg19) ; chr6:g.35456150A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456150A>G , CM000668.2:g.35456150A>G	GRCh38
NC_000006.11:g.35423927A>G , CM000668.1:g.35423927A>G	GRCh37
NC_000006.10:g.35531905A>G	NCBI36
NG_011708.1:g.8790A>G , LRG_498:g.8790A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.652A>G	ENSP00000512511.1:p.Lys218Glu
ENST00000696265.1:c.652A>G	ENSP00000512512.1:p.Lys218Glu
ENST00000696266.1:c.370A>G	ENSP00000512513.1:p.Lys124Glu
ENST00000696267.1:n.292A>G
ENST00000229769.3:c.652A>G MANE Select	ENSP00000229769.2:p.Lys218Glu
ENST00000648059.1:c.652A>G	ENSP00000497902.1:p.Lys218Glu
ENST00000229769.2:c.652A>G	ENSP00000229769.2:p.Lys218Glu
NM_021922.2:c.652A>G , LRG_498t1:c.652A>G	NP_068741.1:p.Lys218Glu
XM_005248885.2:c.652A>G	XP_005248942.1:p.Lys218Glu
XM_005248886.2:c.652A>G	XP_005248943.1:p.Lys218Glu
XM_005248887.2:c.652A>G	XP_005248944.1:p.Lys218Glu
XM_005248888.2:c.652A>G	XP_005248945.1:p.Lys218Glu
XM_011514343.1:c.358A>G	XP_011512645.1:p.Lys120Glu
XM_011514344.1:c.358A>G	XP_011512646.1:p.Lys120Glu
XM_005248888.3:c.652A>G	XP_005248945.1:p.Lys218Glu
XM_011514343.2:c.358A>G	XP_011512645.1:p.Lys120Glu
XR_001743226.1:n.859A>G
XR_002956267.1:n.859A>G
NM_021922.3:c.652A>G MANE Select	NP_068741.1:p.Lys218Glu