Canonical Allele Identifier: CA363773250

Gene: FANCE

Linked Data

• dbSNP Id: rs150278839
• gnomAD v2: 6-35423874-G-T
• gnomAD v4: 6-35456097-G-T
• MyVariant Identifiers: chr6:g.35423874G>T (hg19) ; chr6:g.35456097G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456097G>T , CM000668.2:g.35456097G>T	GRCh38
NC_000006.11:g.35423874G>T , CM000668.1:g.35423874G>T	GRCh37
NC_000006.10:g.35531852G>T	NCBI36
NG_011708.1:g.8737G>T , LRG_498:g.8737G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.599G>T	ENSP00000512511.1:p.Arg200Leu
ENST00000696265.1:c.599G>T	ENSP00000512512.1:p.Arg200Leu
ENST00000696266.1:c.317G>T	ENSP00000512513.1:p.Arg106Leu
ENST00000696267.1:n.239G>T
ENST00000229769.3:c.599G>T MANE Select	ENSP00000229769.2:p.Arg200Leu
ENST00000648059.1:c.599G>T	ENSP00000497902.1:p.Arg200Leu
ENST00000229769.2:c.599G>T	ENSP00000229769.2:p.Arg200Leu
NM_021922.2:c.599G>T , LRG_498t1:c.599G>T	NP_068741.1:p.Arg200Leu
XM_005248885.2:c.599G>T	XP_005248942.1:p.Arg200Leu
XM_005248886.2:c.599G>T	XP_005248943.1:p.Arg200Leu
XM_005248887.2:c.599G>T	XP_005248944.1:p.Arg200Leu
XM_005248888.2:c.599G>T	XP_005248945.1:p.Arg200Leu
XM_011514343.1:c.305G>T	XP_011512645.1:p.Arg102Leu
XM_011514344.1:c.305G>T	XP_011512646.1:p.Arg102Leu
XM_005248888.3:c.599G>T	XP_005248945.1:p.Arg200Leu
XM_011514343.2:c.305G>T	XP_011512645.1:p.Arg102Leu
XR_001743226.1:n.806G>T
XR_002956267.1:n.806G>T
NM_021922.3:c.599G>T MANE Select	NP_068741.1:p.Arg200Leu