Canonical Allele Identifier: CA3771465

Gene: FANCE

Linked Data

• ClinVar Variation Id: 356447
• ClinVar RCV Id: RCV000862983 ; RCV002256221 ; RCV001821088 ; RCV003932471
• dbSNP Id: rs147356927
• ExAC: 6:35423971 G / A
• gnomAD v2: 6-35423971-G-A
• gnomAD v3: 6-35456194-G-A
• gnomAD v4: 6-35456194-G-A
• MyVariant Identifiers: chr6:g.35423971G>A (hg19) ; chr6:g.35456194G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456194G>A , CM000668.2:g.35456194G>A	GRCh38
NC_000006.11:g.35423971G>A , CM000668.1:g.35423971G>A	GRCh37
NC_000006.10:g.35531949G>A	NCBI36
NG_011708.1:g.8834G>A , LRG_498:g.8834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.696G>A	ENSP00000512511.1:p.Glu232=
ENST00000696265.1:c.696G>A	ENSP00000512512.1:p.Glu232=
ENST00000696266.1:c.414G>A	ENSP00000512513.1:p.Glu138=
ENST00000696267.1:n.336G>A
ENST00000229769.3:c.696G>A MANE Select	ENSP00000229769.2:p.Glu232=
ENST00000648059.1:c.696G>A	ENSP00000497902.1:p.Glu232=
ENST00000229769.2:c.696G>A	ENSP00000229769.2:p.Glu232=
NM_021922.2:c.696G>A , LRG_498t1:c.696G>A	NP_068741.1:p.Glu232=
XM_005248885.2:c.696G>A	XP_005248942.1:p.Glu232=
XM_005248886.2:c.696G>A	XP_005248943.1:p.Glu232=
XM_005248887.2:c.696G>A	XP_005248944.1:p.Glu232=
XM_005248888.2:c.696G>A	XP_005248945.1:p.Glu232=
XM_011514343.1:c.402G>A	XP_011512645.1:p.Glu134=
XM_011514344.1:c.402G>A	XP_011512646.1:p.Glu134=
XM_005248888.3:c.696G>A	XP_005248945.1:p.Glu232=
XM_011514343.2:c.402G>A	XP_011512645.1:p.Glu134=
XR_001743226.1:n.903G>A
XR_002956267.1:n.903G>A
NM_021922.3:c.696G>A MANE Select	NP_068741.1:p.Glu232=