Canonical Allele Identifier: CA137295041

Gene: FANCE

Linked Data

• dbSNP Id: rs887404730
• MyVariant Identifiers: chr6:g.35423975C>T (hg19) ; chr6:g.35456198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456198C>T , CM000668.2:g.35456198C>T	GRCh38
NC_000006.11:g.35423975C>T , CM000668.1:g.35423975C>T	GRCh37
NC_000006.10:g.35531953C>T	NCBI36
NG_011708.1:g.8838C>T , LRG_498:g.8838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.700C>T	ENSP00000512511.1:p.Pro234Ser
ENST00000696265.1:c.700C>T	ENSP00000512512.1:p.Pro234Ser
ENST00000696266.1:c.418C>T	ENSP00000512513.1:p.Pro140Ser
ENST00000696267.1:n.340C>T
ENST00000229769.3:c.700C>T MANE Select	ENSP00000229769.2:p.Pro234Ser
ENST00000648059.1:c.700C>T	ENSP00000497902.1:p.Pro234Ser
ENST00000229769.2:c.700C>T	ENSP00000229769.2:p.Pro234Ser
NM_021922.2:c.700C>T , LRG_498t1:c.700C>T	NP_068741.1:p.Pro234Ser
XM_005248885.2:c.700C>T	XP_005248942.1:p.Pro234Ser
XM_005248886.2:c.700C>T	XP_005248943.1:p.Pro234Ser
XM_005248887.2:c.700C>T	XP_005248944.1:p.Pro234Ser
XM_005248888.2:c.700C>T	XP_005248945.1:p.Pro234Ser
XM_011514343.1:c.406C>T	XP_011512645.1:p.Pro136Ser
XM_011514344.1:c.406C>T	XP_011512646.1:p.Pro136Ser
XM_005248888.3:c.700C>T	XP_005248945.1:p.Pro234Ser
XM_011514343.2:c.406C>T	XP_011512645.1:p.Pro136Ser
XR_001743226.1:n.907C>T
XR_002956267.1:n.907C>T
NM_021922.3:c.700C>T MANE Select	NP_068741.1:p.Pro234Ser