Canonical Allele Identifier: CA10626534

Gene: FANCE

Linked Data

• ClinVar Variation Id: 356458
• ClinVar RCV Id: RCV000274843
• dbSNP Id: rs886061333
• gnomAD v3: 6-35466746-G-C
• gnomAD v4: 6-35466746-G-C
• MyVariant Identifiers: chr6:g.35434523G>C (hg19) ; chr6:g.35466746G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35466746G>C , CM000668.2:g.35466746G>C	GRCh38
NC_000006.11:g.35434523G>C , CM000668.1:g.35434523G>C	GRCh37
NC_000006.10:g.35542501G>C	NCBI36
NG_011708.1:g.19386G>C , LRG_498:g.19386G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.1819G>C	ENSP00000512511.1:n.1819G>C
ENST00000696265.1:c.1945G>C	ENSP00000512512.1:n.1945G>C
ENST00000696266.1:c.1657G>C	ENSP00000512513.1:n.1657G>C
ENST00000696267.1:n.2279G>C
ENST00000696269.1:n.1628G>C
ENST00000229769.3:c.*401G>C MANE Select	ENSP00000229769.2:n.*401G>C
ENST00000648059.1:c.*633G>C	ENSP00000497902.1:n.*633G>C
ENST00000229769.2:c.*401G>C	ENSP00000229769.2:n.*401G>C
NM_021922.2:c.*401G>C , LRG_498t1:c.*401G>C	NP_068741.1:n.*401G>C
XM_005248885.2:c.*401G>C	XP_005248942.1:n.*401G>C
XM_005248886.2:c.*401G>C	XP_005248943.1:n.*401G>C
XM_005248887.2:c.*401G>C	XP_005248944.1:n.*401G>C
XM_011514343.1:c.*401G>C	XP_011512645.1:n.*401G>C
XM_011514344.1:c.*401G>C	XP_011512646.1:n.*401G>C
XM_005248888.3:c.*463G>C	XP_005248945.1:n.*463G>C
XM_011514343.2:c.*401G>C	XP_011512645.1:n.*401G>C
XR_001743226.1:n.2152G>C
XR_002956267.1:n.2446G>C
NM_021922.3:c.*401G>C MANE Select	NP_068741.1:n.*401G>C