Canonical Allele Identifier: CA3771765

Gene: FANCE

Linked Data

• ClinVar Variation Id: 539293
• ClinVar RCV Id: RCV000648999 ; RCV002257904 ; RCV002235507
• dbSNP Id: rs139547269
• ExAC: 6:35434121 G / T
• gnomAD v2: 6-35434121-G-T
• gnomAD v3: 6-35466344-G-T
• gnomAD v4: 6-35466344-G-T
• MyVariant Identifiers: chr6:g.35434121G>T (hg19) ; chr6:g.35466344G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35466344G>T , CM000668.2:g.35466344G>T	GRCh38
NC_000006.11:g.35434121G>T , CM000668.1:g.35434121G>T	GRCh37
NC_000006.10:g.35542099G>T	NCBI36
NG_011708.1:g.18984G>T , LRG_498:g.18984G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.1417G>T	ENSP00000512511.1:n.1417G>T
ENST00000696265.1:c.1543G>T	ENSP00000512512.1:n.1543G>T
ENST00000696266.1:c.1255G>T	ENSP00000512513.1:n.1255G>T
ENST00000696267.1:n.1877G>T
ENST00000696269.1:n.1226G>T
ENST00000229769.3:c.1610G>T MANE Select	ENSP00000229769.2:p.Ter537Leu
ENST00000648059.1:c.*231G>T	ENSP00000497902.1:n.*231G>T
ENST00000229769.2:c.1610G>T	ENSP00000229769.2:p.Ter537Leu
NM_021922.2:c.1610G>T , LRG_498t1:c.1610G>T	NP_068741.1:p.Ter537Leu
XM_005248885.2:c.1589G>T	XP_005248942.1:p.Ter530Leu
XM_005248886.2:c.1541G>T	XP_005248943.1:p.Ter514Leu
XM_005248887.2:c.1484G>T	XP_005248944.1:p.Ter495Leu
XM_005248888.2:c.*61G>T	XP_005248945.1:n.*61G>T
XM_011514343.1:c.1316G>T	XP_011512645.1:p.Ter439Leu
XM_011514344.1:c.1316G>T	XP_011512646.1:p.Ter439Leu
XM_005248888.3:c.*61G>T	XP_005248945.1:n.*61G>T
XM_011514343.2:c.1316G>T	XP_011512645.1:p.Ter439Leu
XR_001743226.1:n.1750G>T
XR_002956267.1:n.2044G>T
NM_021922.3:c.1610G>T MANE Select	NP_068741.1:p.Ter537Leu