Canonical Allele Identifier: CA10621952

Gene: FANCE

Linked Data

• ClinVar Variation Id: 356454
• ClinVar RCV Id: RCV000335592
• dbSNP Id: rs886061332
• MyVariant Identifiers: chr6:g.35434104G>A (hg19) ; chr6:g.35466327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35466327G>A , CM000668.2:g.35466327G>A	GRCh38
NC_000006.11:g.35434104G>A , CM000668.1:g.35434104G>A	GRCh37
NC_000006.10:g.35542082G>A	NCBI36
NG_011708.1:g.18967G>A , LRG_498:g.18967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.1400G>A	ENSP00000512511.1:n.1400G>A
ENST00000696265.1:c.1526G>A	ENSP00000512512.1:n.1526G>A
ENST00000696266.1:c.1238G>A	ENSP00000512513.1:n.1238G>A
ENST00000696267.1:n.1860G>A
ENST00000696269.1:n.1209G>A
ENST00000229769.3:c.1593G>A MANE Select	ENSP00000229769.2:p.Leu531=
ENST00000648059.1:c.*214G>A	ENSP00000497902.1:n.*214G>A
ENST00000229769.2:c.1593G>A	ENSP00000229769.2:p.Leu531=
NM_021922.2:c.1593G>A , LRG_498t1:c.1593G>A	NP_068741.1:p.Leu531=
XM_005248885.2:c.1572G>A	XP_005248942.1:p.Leu524=
XM_005248886.2:c.1524G>A	XP_005248943.1:p.Leu508=
XM_005248887.2:c.1467G>A	XP_005248944.1:p.Leu489=
XM_005248888.2:c.*44G>A	XP_005248945.1:n.*44G>A
XM_011514343.1:c.1299G>A	XP_011512645.1:p.Leu433=
XM_011514344.1:c.1299G>A	XP_011512646.1:p.Leu433=
XM_005248888.3:c.*44G>A	XP_005248945.1:n.*44G>A
XM_011514343.2:c.1299G>A	XP_011512645.1:p.Leu433=
XR_001743226.1:n.1733G>A
XR_002956267.1:n.2027G>A
NM_021922.3:c.1593G>A MANE Select	NP_068741.1:p.Leu531=