Canonical Allele Identifier: CA363773066

Gene: FANCE

Linked Data

• dbSNP Id: rs2150890769
• MyVariant Identifiers: chr6:g.35423787T>G (hg19) ; chr6:g.35456010T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456010T>G , CM000668.2:g.35456010T>G	GRCh38
NC_000006.11:g.35423787T>G , CM000668.1:g.35423787T>G	GRCh37
NC_000006.10:g.35531765T>G	NCBI36
NG_011708.1:g.8650T>G , LRG_498:g.8650T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.512T>G	ENSP00000512511.1:p.Leu171Arg
ENST00000696265.1:c.512T>G	ENSP00000512512.1:p.Leu171Arg
ENST00000696266.1:c.230T>G	ENSP00000512513.1:p.Leu77Arg
ENST00000696267.1:n.152T>G
ENST00000229769.3:c.512T>G MANE Select	ENSP00000229769.2:p.Leu171Arg
ENST00000648059.1:c.512T>G	ENSP00000497902.1:p.Leu171Arg
ENST00000229769.2:c.512T>G	ENSP00000229769.2:p.Leu171Arg
NM_021922.2:c.512T>G , LRG_498t1:c.512T>G	NP_068741.1:p.Leu171Arg
XM_005248885.2:c.512T>G	XP_005248942.1:p.Leu171Arg
XM_005248886.2:c.512T>G	XP_005248943.1:p.Leu171Arg
XM_005248887.2:c.512T>G	XP_005248944.1:p.Leu171Arg
XM_005248888.2:c.512T>G	XP_005248945.1:p.Leu171Arg
XM_011514343.1:c.218T>G	XP_011512645.1:p.Leu73Arg
XM_011514344.1:c.218T>G	XP_011512646.1:p.Leu73Arg
XM_005248888.3:c.512T>G	XP_005248945.1:p.Leu171Arg
XM_011514343.2:c.218T>G	XP_011512645.1:p.Leu73Arg
XR_001743226.1:n.719T>G
XR_002956267.1:n.719T>G
NM_021922.3:c.512T>G MANE Select	NP_068741.1:p.Leu171Arg