Canonical Allele Identifier: CA363773188

Gene: FANCE

Linked Data

• MyVariant Identifiers: chr6:g.35423847A>C (hg19) ; chr6:g.35456070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456070A>C , CM000668.2:g.35456070A>C	GRCh38
NC_000006.11:g.35423847A>C , CM000668.1:g.35423847A>C	GRCh37
NC_000006.10:g.35531825A>C	NCBI36
NG_011708.1:g.8710A>C , LRG_498:g.8710A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.572A>C	ENSP00000512511.1:p.Asn191Thr
ENST00000696265.1:c.572A>C	ENSP00000512512.1:p.Asn191Thr
ENST00000696266.1:c.290A>C	ENSP00000512513.1:p.Asn97Thr
ENST00000696267.1:n.212A>C
ENST00000229769.3:c.572A>C MANE Select	ENSP00000229769.2:p.Asn191Thr
ENST00000648059.1:c.572A>C	ENSP00000497902.1:p.Asn191Thr
ENST00000229769.2:c.572A>C	ENSP00000229769.2:p.Asn191Thr
NM_021922.2:c.572A>C , LRG_498t1:c.572A>C	NP_068741.1:p.Asn191Thr
XM_005248885.2:c.572A>C	XP_005248942.1:p.Asn191Thr
XM_005248886.2:c.572A>C	XP_005248943.1:p.Asn191Thr
XM_005248887.2:c.572A>C	XP_005248944.1:p.Asn191Thr
XM_005248888.2:c.572A>C	XP_005248945.1:p.Asn191Thr
XM_011514343.1:c.278A>C	XP_011512645.1:p.Asn93Thr
XM_011514344.1:c.278A>C	XP_011512646.1:p.Asn93Thr
XM_005248888.3:c.572A>C	XP_005248945.1:p.Asn191Thr
XM_011514343.2:c.278A>C	XP_011512645.1:p.Asn93Thr
XR_001743226.1:n.779A>C
XR_002956267.1:n.779A>C
NM_021922.3:c.572A>C MANE Select	NP_068741.1:p.Asn191Thr