Canonical Allele Identifier: CA10575503

Gene: FANCE

Linked Data

• ClinVar Variation Id: 8711
• ClinVar RCV Id: RCV000009249 ; RCV003884334
• dbSNP Id: rs878854342
• gnomAD v3: 6-35459323-G-A
• gnomAD v4: 6-35459323-G-A
• MyVariant Identifiers: chr6:g.35427100G>A (hg19) ; chr6:g.35459323G>A (hg38)
• PubMed: PMID:7662964 ; PMID:10205272 ; PMID:11001585

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35459323G>A , CM000668.2:g.35459323G>A	GRCh38
NC_000006.11:g.35427100G>A , CM000668.1:g.35427100G>A	GRCh37
NC_000006.10:g.35535078G>A	NCBI36
NG_011708.1:g.11963G>A , LRG_498:g.11963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.1114-8G>A	ENSP00000512511.1:n.1114-8G>A
ENST00000696265.1:c.1114-8G>A	ENSP00000512512.1:n.1114-8G>A
ENST00000696266.1:c.763-8G>A	ENSP00000512513.1:n.763-8G>A
ENST00000696267.1:n.1381-8G>A
ENST00000229769.3:c.1114-8G>A MANE Select	ENSP00000229769.2:n.1114-8G>A
ENST00000648059.1:c.1114-8G>A	ENSP00000497902.1:n.1114-8G>A
ENST00000229769.2:c.1114-8G>A	ENSP00000229769.2:n.1114-8G>A
NM_021922.2:c.1114-8G>A , LRG_498t1:c.1114-8G>A	NP_068741.1:n.1114-8G>A
XM_005248885.2:c.1093-8G>A	XP_005248942.1:n.1093-8G>A
XM_005248886.2:c.1045-8G>A	XP_005248943.1:n.1045-8G>A
XM_005248887.2:c.1114-8G>A	XP_005248944.1:n.1114-8G>A
XM_005248888.2:c.1114-8G>A	XP_005248945.1:n.1114-8G>A
XM_011514343.1:c.820-8G>A	XP_011512645.1:n.820-8G>A
XM_011514344.1:c.820-8G>A	XP_011512646.1:n.820-8G>A
XM_005248888.3:c.1114-8G>A	XP_005248945.1:n.1114-8G>A
XM_011514343.2:c.820-8G>A	XP_011512645.1:n.820-8G>A
XR_001743226.1:n.1321-8G>A
XR_002956267.1:n.1615-8G>A
NM_021922.3:c.1114-8G>A MANE Select	NP_068741.1:n.1114-8G>A