Canonical Allele Identifier: CA363773138

Gene: FANCE

Linked Data

• ClinVar Variation Id: 929574
• ClinVar RCV Id: RCV001194801
• dbSNP Id: rs373268808
• MyVariant Identifiers: chr6:g.35423826C>A (hg19) ; chr6:g.35456049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456049C>A , CM000668.2:g.35456049C>A	GRCh38
NC_000006.11:g.35423826C>A , CM000668.1:g.35423826C>A	GRCh37
NC_000006.10:g.35531804C>A	NCBI36
NG_011708.1:g.8689C>A , LRG_498:g.8689C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.551C>A	ENSP00000512511.1:p.Pro184Gln
ENST00000696265.1:c.551C>A	ENSP00000512512.1:p.Pro184Gln
ENST00000696266.1:c.269C>A	ENSP00000512513.1:p.Pro90Gln
ENST00000696267.1:n.191C>A
ENST00000229769.3:c.551C>A MANE Select	ENSP00000229769.2:p.Pro184Gln
ENST00000648059.1:c.551C>A	ENSP00000497902.1:p.Pro184Gln
ENST00000229769.2:c.551C>A	ENSP00000229769.2:p.Pro184Gln
NM_021922.2:c.551C>A , LRG_498t1:c.551C>A	NP_068741.1:p.Pro184Gln
XM_005248885.2:c.551C>A	XP_005248942.1:p.Pro184Gln
XM_005248886.2:c.551C>A	XP_005248943.1:p.Pro184Gln
XM_005248887.2:c.551C>A	XP_005248944.1:p.Pro184Gln
XM_005248888.2:c.551C>A	XP_005248945.1:p.Pro184Gln
XM_011514343.1:c.257C>A	XP_011512645.1:p.Pro86Gln
XM_011514344.1:c.257C>A	XP_011512646.1:p.Pro86Gln
XM_005248888.3:c.551C>A	XP_005248945.1:p.Pro184Gln
XM_011514343.2:c.257C>A	XP_011512645.1:p.Pro86Gln
XR_001743226.1:n.758C>A
XR_002956267.1:n.758C>A
NM_021922.3:c.551C>A MANE Select	NP_068741.1:p.Pro184Gln