Canonical Allele Identifier: CA374105873

Gene: AOPEP FANCC

Linked Data

• MyVariant Identifiers: chr9:g.97869433G>T (hg19) ; chr9:g.95107151G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107151G>T , CM000671.2:g.95107151G>T	GRCh38
NC_000009.11:g.97869433G>T , CM000671.1:g.97869433G>T	GRCh37
NC_000009.10:g.96909254G>T	NCBI36
NG_011707.1:g.215559C>A , LRG_497:g.215559C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26371G>T (AOPEP)
ENST00000696260.1:n.2263C>A (FANCC)
ENST00000289081.8:c.1448C>A (FANCC) MANE Select	ENSP00000289081.3:p.Ala483Glu
ENST00000375305.6:c.1448C>A (FANCC)	ENSP00000364454.1:p.Ala483Glu
ENST00000649334.1:c.1593C>A (FANCC)	ENSP00000497735.1:n.1593C>A
ENST00000289081.7:c.1448C>A (FANCC)	ENSP00000289081.3:p.Ala483Glu
ENST00000375305.5:c.1448C>A (FANCC)	ENSP00000364454.1:p.Ala483Glu
ENST00000464627.5:n.775C>A (FANCC)
NM_000136.2:c.1448C>A , LRG_497t1:c.1448C>A (FANCC)	NP_000127.2:p.Ala483Glu
NM_001243743.1:c.1448C>A (FANCC)	NP_001230672.1:p.Ala483Glu
XM_005251802.2:c.767C>A (FANCC)	XP_005251859.1:p.Ala256Glu
XM_006717001.1:c.1283C>A (FANCC)	XP_006717064.1:p.Ala428Glu
XM_011518365.1:c.1448C>A (FANCC)	XP_011516667.1:p.Ala483Glu
XM_011518367.1:c.992C>A (FANCC)	XP_011516669.1:p.Ala331Glu
XM_011519121.1:c.2319+26371G>T (AOPEP)	XP_011517423.1:n.2319+26371G>T
XM_005251802.3:c.767C>A (FANCC)	XP_005251859.1:p.Ala256Glu
XM_006717001.3:c.1283C>A (FANCC)	XP_006717064.1:p.Ala428Glu
XM_011518365.3:c.1448C>A (FANCC)	XP_011516667.1:p.Ala483Glu
XM_011518367.2:c.992C>A (FANCC)	XP_011516669.1:p.Ala331Glu
XM_011519121.3:c.2319+26371G>T (AOPEP)	XP_011517423.1:n.2319+26371G>T
XM_017014452.2:c.992C>A (FANCC)	XP_016869941.1:p.Ala331Glu
XM_017014453.1:c.992C>A (FANCC)	XP_016869942.1:p.Ala331Glu
XM_017014454.1:c.827C>A (FANCC)	XP_016869943.1:p.Ala276Glu
XM_024447451.1:c.1448C>A (FANCC)	XP_024303219.1:p.Ala483Glu
XR_001746847.1:n.569G>T
NM_000136.3:c.1448C>A (FANCC) MANE Select	NP_000127.2:p.Ala483Glu
NM_001243743.2:c.1448C>A (FANCC)	NP_001230672.1:p.Ala483Glu