Canonical Allele Identifier: CA363773079

Gene: FANCE

Linked Data

• ClinVar Variation Id: 939255
• ClinVar RCV Id: RCV001208626
• dbSNP Id: rs1014679374
• MyVariant Identifiers: chr6:g.35423796G>T (hg19) ; chr6:g.35456019G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456019G>T , CM000668.2:g.35456019G>T	GRCh38
NC_000006.11:g.35423796G>T , CM000668.1:g.35423796G>T	GRCh37
NC_000006.10:g.35531774G>T	NCBI36
NG_011708.1:g.8659G>T , LRG_498:g.8659G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.521G>T	ENSP00000512511.1:p.Gly174Val
ENST00000696265.1:c.521G>T	ENSP00000512512.1:p.Gly174Val
ENST00000696266.1:c.239G>T	ENSP00000512513.1:p.Gly80Val
ENST00000696267.1:n.161G>T
ENST00000229769.3:c.521G>T MANE Select	ENSP00000229769.2:p.Gly174Val
ENST00000648059.1:c.521G>T	ENSP00000497902.1:p.Gly174Val
ENST00000229769.2:c.521G>T	ENSP00000229769.2:p.Gly174Val
NM_021922.2:c.521G>T , LRG_498t1:c.521G>T	NP_068741.1:p.Gly174Val
XM_005248885.2:c.521G>T	XP_005248942.1:p.Gly174Val
XM_005248886.2:c.521G>T	XP_005248943.1:p.Gly174Val
XM_005248887.2:c.521G>T	XP_005248944.1:p.Gly174Val
XM_005248888.2:c.521G>T	XP_005248945.1:p.Gly174Val
XM_011514343.1:c.227G>T	XP_011512645.1:p.Gly76Val
XM_011514344.1:c.227G>T	XP_011512646.1:p.Gly76Val
XM_005248888.3:c.521G>T	XP_005248945.1:p.Gly174Val
XM_011514343.2:c.227G>T	XP_011512645.1:p.Gly76Val
XR_001743226.1:n.728G>T
XR_002956267.1:n.728G>T
NM_021922.3:c.521G>T MANE Select	NP_068741.1:p.Gly174Val