Canonical Allele Identifier: CA363770993

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35452795T>C , CM000668.2:g.35452795T>C	GRCh38
NC_000006.11:g.35420572T>C , CM000668.1:g.35420572T>C	GRCh37
NC_000006.10:g.35528550T>C	NCBI36
NG_011708.1:g.5435T>C , LRG_498:g.5435T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021922.3:c.248+2T>C MANE Select	NP_068741.1:n.248+2T>C
ENST00000229769.3:c.248+2T>C MANE Select	ENSP00000229769.2:n.248+2T>C
NM_021922.2:c.248+2T>C , LRG_498t1:c.248+2T>C	NP_068741.1:n.248+2T>C
ENST00000229769.2:c.248+2T>C	ENSP00000229769.2:n.248+2T>C
ENST00000648059.1:c.248+2T>C	ENSP00000497902.1:n.248+2T>C
ENST00000696264.1:c.248+2T>C	ENSP00000512511.1:n.248+2T>C
ENST00000696265.1:c.248+2T>C	ENSP00000512512.1:n.248+2T>C
XM_005248885.2:c.248+2T>C	XP_005248942.1:n.248+2T>C
XM_005248886.2:c.248+2T>C	XP_005248943.1:n.248+2T>C
XM_005248887.2:c.248+2T>C	XP_005248944.1:n.248+2T>C
XM_005248888.2:c.248+2T>C	XP_005248945.1:n.248+2T>C
XM_005248888.3:c.248+2T>C	XP_005248945.1:n.248+2T>C
XM_011514344.1:c.-74T>C	XP_011512646.1:n.-74T>C
XR_001743226.1:n.455+2T>C
XR_002956267.1:n.455+2T>C