Canonical Allele Identifier: CA3771418

Gene: FANCE

Linked Data

• ClinVar Variation Id: 1653030
• ClinVar RCV Id: RCV002173925
• dbSNP Id: rs140563583
• ExAC: 6:35423774 C / T
• gnomAD v2: 6-35423774-C-T
• gnomAD v3: 6-35455997-C-T
• gnomAD v4: 6-35455997-C-T
• MyVariant Identifiers: chr6:g.35423774C>T (hg19) ; chr6:g.35455997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35455997C>T , CM000668.2:g.35455997C>T	GRCh38
NC_000006.11:g.35423774C>T , CM000668.1:g.35423774C>T	GRCh37
NC_000006.10:g.35531752C>T	NCBI36
NG_011708.1:g.8637C>T , LRG_498:g.8637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.499C>T	ENSP00000512511.1:p.Leu167=
ENST00000696265.1:c.499C>T	ENSP00000512512.1:p.Leu167=
ENST00000696266.1:c.217C>T	ENSP00000512513.1:p.Leu73=
ENST00000696267.1:n.139C>T
ENST00000229769.3:c.499C>T MANE Select	ENSP00000229769.2:p.Leu167=
ENST00000648059.1:c.499C>T	ENSP00000497902.1:p.Leu167=
ENST00000229769.2:c.499C>T	ENSP00000229769.2:p.Leu167=
NM_021922.2:c.499C>T , LRG_498t1:c.499C>T	NP_068741.1:p.Leu167=
XM_005248885.2:c.499C>T	XP_005248942.1:p.Leu167=
XM_005248886.2:c.499C>T	XP_005248943.1:p.Leu167=
XM_005248887.2:c.499C>T	XP_005248944.1:p.Leu167=
XM_005248888.2:c.499C>T	XP_005248945.1:p.Leu167=
XM_011514343.1:c.205C>T	XP_011512645.1:p.Leu69=
XM_011514344.1:c.205C>T	XP_011512646.1:p.Leu69=
XM_005248888.3:c.499C>T	XP_005248945.1:p.Leu167=
XM_011514343.2:c.205C>T	XP_011512645.1:p.Leu69=
XR_001743226.1:n.706C>T
XR_002956267.1:n.706C>T
NM_021922.3:c.499C>T MANE Select	NP_068741.1:p.Leu167=