Canonical Allele Identifier: CA3771419

Gene: FANCE

Linked Data

• ClinVar Variation Id: 1563569
• ClinVar RCV Id: RCV002209318
• dbSNP Id: rs769404523
• ExAC: 6:35423776 A / G
• gnomAD v2: 6-35423776-A-G
• gnomAD v4: 6-35455999-A-G
• MyVariant Identifiers: chr6:g.35423776A>G (hg19) ; chr6:g.35455999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35455999A>G , CM000668.2:g.35455999A>G	GRCh38
NC_000006.11:g.35423776A>G , CM000668.1:g.35423776A>G	GRCh37
NC_000006.10:g.35531754A>G	NCBI36
NG_011708.1:g.8639A>G , LRG_498:g.8639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.501A>G	ENSP00000512511.1:p.Leu167=
ENST00000696265.1:c.501A>G	ENSP00000512512.1:p.Leu167=
ENST00000696266.1:c.219A>G	ENSP00000512513.1:p.Leu73=
ENST00000696267.1:n.141A>G
ENST00000229769.3:c.501A>G MANE Select	ENSP00000229769.2:p.Leu167=
ENST00000648059.1:c.501A>G	ENSP00000497902.1:p.Leu167=
ENST00000229769.2:c.501A>G	ENSP00000229769.2:p.Leu167=
NM_021922.2:c.501A>G , LRG_498t1:c.501A>G	NP_068741.1:p.Leu167=
XM_005248885.2:c.501A>G	XP_005248942.1:p.Leu167=
XM_005248886.2:c.501A>G	XP_005248943.1:p.Leu167=
XM_005248887.2:c.501A>G	XP_005248944.1:p.Leu167=
XM_005248888.2:c.501A>G	XP_005248945.1:p.Leu167=
XM_011514343.1:c.207A>G	XP_011512645.1:p.Leu69=
XM_011514344.1:c.207A>G	XP_011512646.1:p.Leu69=
XM_005248888.3:c.501A>G	XP_005248945.1:p.Leu167=
XM_011514343.2:c.207A>G	XP_011512645.1:p.Leu69=
XR_001743226.1:n.708A>G
XR_002956267.1:n.708A>G
NM_021922.3:c.501A>G MANE Select	NP_068741.1:p.Leu167=