Canonical Allele Identifier: CA5137420

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1751526
• ClinVar RCV Id: RCV002360074
• dbSNP Id: rs774113388
• ExAC: 9:97873859 C / A
• gnomAD v2: 9-97873859-C-A
• gnomAD v4: 9-95111577-C-A
• MyVariant Identifiers: chr9:g.97873859C>A (hg19) ; chr9:g.95111577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111577C>A , CM000671.2:g.95111577C>A	GRCh38
NC_000009.11:g.97873859C>A , CM000671.1:g.97873859C>A	GRCh37
NC_000009.10:g.96913680C>A	NCBI36
NG_011707.1:g.211133G>T , LRG_497:g.211133G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30797C>A (AOPEP)
ENST00000696260.1:n.2030G>T (FANCC)
ENST00000289081.8:c.1215G>T (FANCC) MANE Select	ENSP00000289081.3:p.Glu405Asp
ENST00000375305.6:c.1215G>T (FANCC)	ENSP00000364454.1:p.Glu405Asp
ENST00000490972.7:c.1215G>T (FANCC)	ENSP00000479931.1:p.Glu405Asp
ENST00000649334.1:c.1360G>T (FANCC)	ENSP00000497735.1:n.1360G>T
ENST00000289081.7:c.1215G>T (FANCC)	ENSP00000289081.3:p.Glu405Asp
ENST00000375305.5:c.1215G>T (FANCC)	ENSP00000364454.1:p.Glu405Asp
ENST00000464627.5:n.542G>T (FANCC)
ENST00000477942.5:n.570G>T (FANCC)
ENST00000480712.5:n.400G>T (FANCC)
ENST00000490972.6:c.1215G>T (FANCC)	ENSP00000479931.1:p.Glu405Asp
NM_000136.2:c.1215G>T , LRG_497t1:c.1215G>T (FANCC)	NP_000127.2:p.Glu405Asp
NM_001243743.1:c.1215G>T (FANCC)	NP_001230672.1:p.Glu405Asp
NM_001243744.1:c.1215G>T (FANCC)	NP_001230673.1:p.Glu405Asp
XM_005251802.2:c.534G>T (FANCC)	XP_005251859.1:p.Glu178Asp
XM_006717001.1:c.1050G>T (FANCC)	XP_006717064.1:p.Glu350Asp
XM_006717002.2:c.1215G>T (FANCC)	XP_006717065.1:p.Glu405Asp
XM_006717004.2:c.*110G>T (FANCC)	XP_006717067.1:n.*110G>T
XM_011518365.1:c.1215G>T (FANCC)	XP_011516667.1:p.Glu405Asp
XM_011518366.1:c.1215G>T (FANCC)	XP_011516668.1:p.Glu405Asp
XM_011518367.1:c.759G>T (FANCC)	XP_011516669.1:p.Glu253Asp
XM_011519121.1:c.2319+30797C>A (AOPEP)	XP_011517423.1:n.2319+30797C>A
XM_005251802.3:c.534G>T (FANCC)	XP_005251859.1:p.Glu178Asp
XM_006717001.3:c.1050G>T (FANCC)	XP_006717064.1:p.Glu350Asp
XM_006717002.4:c.1215G>T (FANCC)	XP_006717065.1:p.Glu405Asp
XM_006717004.4:c.*110G>T (FANCC)	XP_006717067.1:n.*110G>T
XM_011518365.3:c.1215G>T (FANCC)	XP_011516667.1:p.Glu405Asp
XM_011518366.3:c.1215G>T (FANCC)	XP_011516668.1:p.Glu405Asp
XM_011518367.2:c.759G>T (FANCC)	XP_011516669.1:p.Glu253Asp
XM_011519121.3:c.2319+30797C>A (AOPEP)	XP_011517423.1:n.2319+30797C>A
XM_017014452.2:c.759G>T (FANCC)	XP_016869941.1:p.Glu253Asp
XM_017014453.1:c.759G>T (FANCC)	XP_016869942.1:p.Glu253Asp
XM_017014454.1:c.594G>T (FANCC)	XP_016869943.1:p.Glu198Asp
XM_024447451.1:c.1215G>T (FANCC)	XP_024303219.1:p.Glu405Asp
NM_000136.3:c.1215G>T (FANCC) MANE Select	NP_000127.2:p.Glu405Asp
NM_001243743.2:c.1215G>T (FANCC)	NP_001230672.1:p.Glu405Asp
NM_001243744.2:c.1215G>T (FANCC)	NP_001230673.1:p.Glu405Asp