Canonical Allele Identifier: CA374109426

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1757809
• ClinVar RCV Id: RCV002371003
• dbSNP Id: rs1554835113
• MyVariant Identifiers: chr9:g.97897749C>T (hg19) ; chr9:g.95135467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135467C>T , CM000671.2:g.95135467C>T	GRCh38
NC_000009.11:g.97897749C>T , CM000671.1:g.97897749C>T	GRCh37
NC_000009.10:g.96937570C>T	NCBI36
NG_011707.1:g.187243G>A , LRG_497:g.187243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-11744C>T (AOPEP)
ENST00000696261.1:n.1113G>A (FANCC)
ENST00000289081.8:c.722G>A (FANCC) MANE Select	ENSP00000289081.3:p.Cys241Tyr
ENST00000375305.6:c.722G>A (FANCC)	ENSP00000364454.1:p.Cys241Tyr
ENST00000490972.7:c.722G>A (FANCC)	ENSP00000479931.1:p.Cys241Tyr
ENST00000649334.1:c.867G>A (FANCC)	ENSP00000497735.1:n.867G>A
ENST00000649701.1:n.437G>A (FANCC)
ENST00000289081.7:c.722G>A (FANCC)	ENSP00000289081.3:p.Cys241Tyr
ENST00000375305.5:c.722G>A (FANCC)	ENSP00000364454.1:p.Cys241Tyr
ENST00000477942.5:n.77G>A (FANCC)
ENST00000490972.6:c.722G>A (FANCC)	ENSP00000479931.1:p.Cys241Tyr
NM_000136.2:c.722G>A , LRG_497t1:c.722G>A (FANCC)	NP_000127.2:p.Cys241Tyr
NM_001243743.1:c.722G>A (FANCC)	NP_001230672.1:p.Cys241Tyr
NM_001243744.1:c.722G>A (FANCC)	NP_001230673.1:p.Cys241Tyr
XM_005251802.2:c.41G>A (FANCC)	XP_005251859.1:p.Cys14Tyr
XM_006717001.1:c.557G>A (FANCC)	XP_006717064.1:p.Cys186Tyr
XM_006717002.2:c.722G>A (FANCC)	XP_006717065.1:p.Cys241Tyr
XM_006717004.2:c.722G>A (FANCC)	XP_006717067.1:p.Cys241Tyr
XM_011518365.1:c.722G>A (FANCC)	XP_011516667.1:p.Cys241Tyr
XM_011518366.1:c.722G>A (FANCC)	XP_011516668.1:p.Cys241Tyr
XM_011518367.1:c.266G>A (FANCC)	XP_011516669.1:p.Cys89Tyr
XM_011519121.1:c.2320-11744C>T (AOPEP)	XP_011517423.1:n.2320-11744C>T
XM_005251802.3:c.41G>A (FANCC)	XP_005251859.1:p.Cys14Tyr
XM_006717001.3:c.557G>A (FANCC)	XP_006717064.1:p.Cys186Tyr
XM_006717002.4:c.722G>A (FANCC)	XP_006717065.1:p.Cys241Tyr
XM_006717004.4:c.722G>A (FANCC)	XP_006717067.1:p.Cys241Tyr
XM_011518365.3:c.722G>A (FANCC)	XP_011516667.1:p.Cys241Tyr
XM_011518366.3:c.722G>A (FANCC)	XP_011516668.1:p.Cys241Tyr
XM_011518367.2:c.266G>A (FANCC)	XP_011516669.1:p.Cys89Tyr
XM_011519121.3:c.2320-11744C>T (AOPEP)	XP_011517423.1:n.2320-11744C>T
XM_017014452.2:c.266G>A (FANCC)	XP_016869941.1:p.Cys89Tyr
XM_017014453.1:c.266G>A (FANCC)	XP_016869942.1:p.Cys89Tyr
XM_017014454.1:c.101G>A (FANCC)	XP_016869943.1:p.Cys34Tyr
XM_024447451.1:c.722G>A (FANCC)	XP_024303219.1:p.Cys241Tyr
NM_000136.3:c.722G>A (FANCC) MANE Select	NP_000127.2:p.Cys241Tyr
NM_001243743.2:c.722G>A (FANCC)	NP_001230672.1:p.Cys241Tyr
NM_001243744.2:c.722G>A (FANCC)	NP_001230673.1:p.Cys241Tyr