Canonical Allele Identifier: CA363773339

Gene: FANCE

Linked Data

• dbSNP Id: rs2150891227
• gnomAD v4: 6-35456124-C-T
• MyVariant Identifiers: chr6:g.35423901C>T (hg19) ; chr6:g.35456124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456124C>T , CM000668.2:g.35456124C>T	GRCh38
NC_000006.11:g.35423901C>T , CM000668.1:g.35423901C>T	GRCh37
NC_000006.10:g.35531879C>T	NCBI36
NG_011708.1:g.8764C>T , LRG_498:g.8764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.626C>T	ENSP00000512511.1:p.Ala209Val
ENST00000696265.1:c.626C>T	ENSP00000512512.1:p.Ala209Val
ENST00000696266.1:c.344C>T	ENSP00000512513.1:p.Ala115Val
ENST00000696267.1:n.266C>T
ENST00000229769.3:c.626C>T MANE Select	ENSP00000229769.2:p.Ala209Val
ENST00000648059.1:c.626C>T	ENSP00000497902.1:p.Ala209Val
ENST00000229769.2:c.626C>T	ENSP00000229769.2:p.Ala209Val
NM_021922.2:c.626C>T , LRG_498t1:c.626C>T	NP_068741.1:p.Ala209Val
XM_005248885.2:c.626C>T	XP_005248942.1:p.Ala209Val
XM_005248886.2:c.626C>T	XP_005248943.1:p.Ala209Val
XM_005248887.2:c.626C>T	XP_005248944.1:p.Ala209Val
XM_005248888.2:c.626C>T	XP_005248945.1:p.Ala209Val
XM_011514343.1:c.332C>T	XP_011512645.1:p.Ala111Val
XM_011514344.1:c.332C>T	XP_011512646.1:p.Ala111Val
XM_005248888.3:c.626C>T	XP_005248945.1:p.Ala209Val
XM_011514343.2:c.332C>T	XP_011512645.1:p.Ala111Val
XR_001743226.1:n.833C>T
XR_002956267.1:n.833C>T
NM_021922.3:c.626C>T MANE Select	NP_068741.1:p.Ala209Val