Canonical Allele Identifier: CA363773437

Gene: FANCE

Linked Data

• MyVariant Identifiers: chr6:g.35423924C>A (hg19) ; chr6:g.35456147C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456147C>A , CM000668.2:g.35456147C>A	GRCh38
NC_000006.11:g.35423924C>A , CM000668.1:g.35423924C>A	GRCh37
NC_000006.10:g.35531902C>A	NCBI36
NG_011708.1:g.8787C>A , LRG_498:g.8787C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.649C>A	ENSP00000512511.1:p.Pro217Thr
ENST00000696265.1:c.649C>A	ENSP00000512512.1:p.Pro217Thr
ENST00000696266.1:c.367C>A	ENSP00000512513.1:p.Pro123Thr
ENST00000696267.1:n.289C>A
ENST00000229769.3:c.649C>A MANE Select	ENSP00000229769.2:p.Pro217Thr
ENST00000648059.1:c.649C>A	ENSP00000497902.1:p.Pro217Thr
ENST00000229769.2:c.649C>A	ENSP00000229769.2:p.Pro217Thr
NM_021922.2:c.649C>A , LRG_498t1:c.649C>A	NP_068741.1:p.Pro217Thr
XM_005248885.2:c.649C>A	XP_005248942.1:p.Pro217Thr
XM_005248886.2:c.649C>A	XP_005248943.1:p.Pro217Thr
XM_005248887.2:c.649C>A	XP_005248944.1:p.Pro217Thr
XM_005248888.2:c.649C>A	XP_005248945.1:p.Pro217Thr
XM_011514343.1:c.355C>A	XP_011512645.1:p.Pro119Thr
XM_011514344.1:c.355C>A	XP_011512646.1:p.Pro119Thr
XM_005248888.3:c.649C>A	XP_005248945.1:p.Pro217Thr
XM_011514343.2:c.355C>A	XP_011512645.1:p.Pro119Thr
XR_001743226.1:n.856C>A
XR_002956267.1:n.856C>A
NM_021922.3:c.649C>A MANE Select	NP_068741.1:p.Pro217Thr