Canonical Allele Identifier: CA3771352

Gene: FANCE

Linked Data

• ClinVar Variation Id: 471924
• ClinVar RCV Id: RCV000537323 ; RCV001797103 ; RCV001821581 ; RCV002530181
• dbSNP Id: rs758238449
• ExAC: 6:35420528 G / A
• gnomAD v2: 6-35420528-G-A
• gnomAD v3: 6-35452751-G-A
• gnomAD v4: 6-35452751-G-A
• MyVariant Identifiers: chr6:g.35420528G>A (hg19) ; chr6:g.35452751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35452751G>A , CM000668.2:g.35452751G>A	GRCh38
NC_000006.11:g.35420528G>A , CM000668.1:g.35420528G>A	GRCh37
NC_000006.10:g.35528506G>A	NCBI36
NG_011708.1:g.5391G>A , LRG_498:g.5391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.206G>A	ENSP00000512511.1:p.Arg69Gln
ENST00000696265.1:c.206G>A	ENSP00000512512.1:p.Arg69Gln
ENST00000229769.3:c.206G>A MANE Select	ENSP00000229769.2:p.Arg69Gln
ENST00000648059.1:c.206G>A	ENSP00000497902.1:p.Arg69Gln
ENST00000229769.2:c.206G>A	ENSP00000229769.2:p.Arg69Gln
NM_021922.2:c.206G>A , LRG_498t1:c.206G>A	NP_068741.1:p.Arg69Gln
XM_005248885.2:c.206G>A	XP_005248942.1:p.Arg69Gln
XM_005248886.2:c.206G>A	XP_005248943.1:p.Arg69Gln
XM_005248887.2:c.206G>A	XP_005248944.1:p.Arg69Gln
XM_005248888.2:c.206G>A	XP_005248945.1:p.Arg69Gln
XM_011514344.1:c.-118G>A	XP_011512646.1:n.-118G>A
XM_005248888.3:c.206G>A	XP_005248945.1:p.Arg69Gln
XR_001743226.1:n.413G>A
XR_002956267.1:n.413G>A
NM_021922.3:c.206G>A MANE Select	NP_068741.1:p.Arg69Gln