Canonical Allele Identifier: CA3771451

Gene: FANCE

Linked Data

• dbSNP Id: rs751558642
• ExAC: 6:35423891 G / C
• gnomAD v2: 6-35423891-G-C
• gnomAD v4: 6-35456114-G-C
• MyVariant Identifiers: chr6:g.35423891G>C (hg19) ; chr6:g.35456114G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456114G>C , CM000668.2:g.35456114G>C	GRCh38
NC_000006.11:g.35423891G>C , CM000668.1:g.35423891G>C	GRCh37
NC_000006.10:g.35531869G>C	NCBI36
NG_011708.1:g.8754G>C , LRG_498:g.8754G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.616G>C	ENSP00000512511.1:p.Glu206Gln
ENST00000696265.1:c.616G>C	ENSP00000512512.1:p.Glu206Gln
ENST00000696266.1:c.334G>C	ENSP00000512513.1:p.Glu112Gln
ENST00000696267.1:n.256G>C
ENST00000229769.3:c.616G>C MANE Select	ENSP00000229769.2:p.Glu206Gln
ENST00000648059.1:c.616G>C	ENSP00000497902.1:p.Glu206Gln
ENST00000229769.2:c.616G>C	ENSP00000229769.2:p.Glu206Gln
NM_021922.2:c.616G>C , LRG_498t1:c.616G>C	NP_068741.1:p.Glu206Gln
XM_005248885.2:c.616G>C	XP_005248942.1:p.Glu206Gln
XM_005248886.2:c.616G>C	XP_005248943.1:p.Glu206Gln
XM_005248887.2:c.616G>C	XP_005248944.1:p.Glu206Gln
XM_005248888.2:c.616G>C	XP_005248945.1:p.Glu206Gln
XM_011514343.1:c.322G>C	XP_011512645.1:p.Glu108Gln
XM_011514344.1:c.322G>C	XP_011512646.1:p.Glu108Gln
XM_005248888.3:c.616G>C	XP_005248945.1:p.Glu206Gln
XM_011514343.2:c.322G>C	XP_011512645.1:p.Glu108Gln
XR_001743226.1:n.823G>C
XR_002956267.1:n.823G>C
NM_021922.3:c.616G>C MANE Select	NP_068741.1:p.Glu206Gln