Canonical Allele Identifier: CA363773564

Gene: FANCE

Linked Data

• ClinVar Variation Id: 471931
• ClinVar RCV Id: RCV000556008
• dbSNP Id: rs1287242303
• gnomAD v2: 6-35423954-G-A
• gnomAD v4: 6-35456177-G-A
• MyVariant Identifiers: chr6:g.35423954G>A (hg19) ; chr6:g.35456177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456177G>A , CM000668.2:g.35456177G>A	GRCh38
NC_000006.11:g.35423954G>A , CM000668.1:g.35423954G>A	GRCh37
NC_000006.10:g.35531932G>A	NCBI36
NG_011708.1:g.8817G>A , LRG_498:g.8817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.679G>A	ENSP00000512511.1:p.Glu227Lys
ENST00000696265.1:c.679G>A	ENSP00000512512.1:p.Glu227Lys
ENST00000696266.1:c.397G>A	ENSP00000512513.1:p.Glu133Lys
ENST00000696267.1:n.319G>A
ENST00000229769.3:c.679G>A MANE Select	ENSP00000229769.2:p.Glu227Lys
ENST00000648059.1:c.679G>A	ENSP00000497902.1:p.Glu227Lys
ENST00000229769.2:c.679G>A	ENSP00000229769.2:p.Glu227Lys
NM_021922.2:c.679G>A , LRG_498t1:c.679G>A	NP_068741.1:p.Glu227Lys
XM_005248885.2:c.679G>A	XP_005248942.1:p.Glu227Lys
XM_005248886.2:c.679G>A	XP_005248943.1:p.Glu227Lys
XM_005248887.2:c.679G>A	XP_005248944.1:p.Glu227Lys
XM_005248888.2:c.679G>A	XP_005248945.1:p.Glu227Lys
XM_011514343.1:c.385G>A	XP_011512645.1:p.Glu129Lys
XM_011514344.1:c.385G>A	XP_011512646.1:p.Glu129Lys
XM_005248888.3:c.679G>A	XP_005248945.1:p.Glu227Lys
XM_011514343.2:c.385G>A	XP_011512645.1:p.Glu129Lys
XR_001743226.1:n.886G>A
XR_002956267.1:n.886G>A
NM_021922.3:c.679G>A MANE Select	NP_068741.1:p.Glu227Lys