Canonical Allele Identifier: CA3771444

Gene: FANCE

Linked Data

• ClinVar Variation Id: 471930
• ClinVar RCV Id: RCV000538869
• dbSNP Id: rs747727711
• ExAC: 6:35423867 G / A
• gnomAD v2: 6-35423867-G-A
• gnomAD v3: 6-35456090-G-A
• gnomAD v4: 6-35456090-G-A
• MyVariant Identifiers: chr6:g.35423867G>A (hg19) ; chr6:g.35456090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456090G>A , CM000668.2:g.35456090G>A	GRCh38
NC_000006.11:g.35423867G>A , CM000668.1:g.35423867G>A	GRCh37
NC_000006.10:g.35531845G>A	NCBI36
NG_011708.1:g.8730G>A , LRG_498:g.8730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.592G>A	ENSP00000512511.1:p.Gly198Arg
ENST00000696265.1:c.592G>A	ENSP00000512512.1:p.Gly198Arg
ENST00000696266.1:c.310G>A	ENSP00000512513.1:p.Gly104Arg
ENST00000696267.1:n.232G>A
ENST00000229769.3:c.592G>A MANE Select	ENSP00000229769.2:p.Gly198Arg
ENST00000648059.1:c.592G>A	ENSP00000497902.1:p.Gly198Arg
ENST00000229769.2:c.592G>A	ENSP00000229769.2:p.Gly198Arg
NM_021922.2:c.592G>A , LRG_498t1:c.592G>A	NP_068741.1:p.Gly198Arg
XM_005248885.2:c.592G>A	XP_005248942.1:p.Gly198Arg
XM_005248886.2:c.592G>A	XP_005248943.1:p.Gly198Arg
XM_005248887.2:c.592G>A	XP_005248944.1:p.Gly198Arg
XM_005248888.2:c.592G>A	XP_005248945.1:p.Gly198Arg
XM_011514343.1:c.298G>A	XP_011512645.1:p.Gly100Arg
XM_011514344.1:c.298G>A	XP_011512646.1:p.Gly100Arg
XM_005248888.3:c.592G>A	XP_005248945.1:p.Gly198Arg
XM_011514343.2:c.298G>A	XP_011512645.1:p.Gly100Arg
XR_001743226.1:n.799G>A
XR_002956267.1:n.799G>A
NM_021922.3:c.592G>A MANE Select	NP_068741.1:p.Gly198Arg