Canonical Allele Identifier: CA5137418

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1757455
• ClinVar RCV Id: RCV002378374
• dbSNP Id: rs762847515
• ExAC: 9:97873836 A / G
• gnomAD v2: 9-97873836-A-G
• gnomAD v4: 9-95111554-A-G
• MyVariant Identifiers: chr9:g.97873836A>G (hg19) ; chr9:g.95111554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111554A>G , CM000671.2:g.95111554A>G	GRCh38
NC_000009.11:g.97873836A>G , CM000671.1:g.97873836A>G	GRCh37
NC_000009.10:g.96913657A>G	NCBI36
NG_011707.1:g.211156T>C , LRG_497:g.211156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30774A>G (AOPEP)
ENST00000696260.1:n.2053T>C (FANCC)
ENST00000289081.8:c.1238T>C (FANCC) MANE Select	ENSP00000289081.3:p.Met413Thr
ENST00000375305.6:c.1238T>C (FANCC)	ENSP00000364454.1:p.Met413Thr
ENST00000490972.7:c.1238T>C (FANCC)	ENSP00000479931.1:p.Met413Thr
ENST00000649334.1:c.1383T>C (FANCC)	ENSP00000497735.1:n.1383T>C
ENST00000289081.7:c.1238T>C (FANCC)	ENSP00000289081.3:p.Met413Thr
ENST00000375305.5:c.1238T>C (FANCC)	ENSP00000364454.1:p.Met413Thr
ENST00000464627.5:n.565T>C (FANCC)
ENST00000477942.5:n.593T>C (FANCC)
ENST00000480712.5:n.423T>C (FANCC)
ENST00000490972.6:c.1238T>C (FANCC)	ENSP00000479931.1:p.Met413Thr
NM_000136.2:c.1238T>C , LRG_497t1:c.1238T>C (FANCC)	NP_000127.2:p.Met413Thr
NM_001243743.1:c.1238T>C (FANCC)	NP_001230672.1:p.Met413Thr
NM_001243744.1:c.1238T>C (FANCC)	NP_001230673.1:p.Met413Thr
XM_005251802.2:c.557T>C (FANCC)	XP_005251859.1:p.Met186Thr
XM_006717001.1:c.1073T>C (FANCC)	XP_006717064.1:p.Met358Thr
XM_006717002.2:c.1238T>C (FANCC)	XP_006717065.1:p.Met413Thr
XM_006717004.2:c.*133T>C (FANCC)	XP_006717067.1:n.*133T>C
XM_011518365.1:c.1238T>C (FANCC)	XP_011516667.1:p.Met413Thr
XM_011518366.1:c.1238T>C (FANCC)	XP_011516668.1:p.Met413Thr
XM_011518367.1:c.782T>C (FANCC)	XP_011516669.1:p.Met261Thr
XM_011519121.1:c.2319+30774A>G (AOPEP)	XP_011517423.1:n.2319+30774A>G
XM_005251802.3:c.557T>C (FANCC)	XP_005251859.1:p.Met186Thr
XM_006717001.3:c.1073T>C (FANCC)	XP_006717064.1:p.Met358Thr
XM_006717002.4:c.1238T>C (FANCC)	XP_006717065.1:p.Met413Thr
XM_006717004.4:c.*133T>C (FANCC)	XP_006717067.1:n.*133T>C
XM_011518365.3:c.1238T>C (FANCC)	XP_011516667.1:p.Met413Thr
XM_011518366.3:c.1238T>C (FANCC)	XP_011516668.1:p.Met413Thr
XM_011518367.2:c.782T>C (FANCC)	XP_011516669.1:p.Met261Thr
XM_011519121.3:c.2319+30774A>G (AOPEP)	XP_011517423.1:n.2319+30774A>G
XM_017014452.2:c.782T>C (FANCC)	XP_016869941.1:p.Met261Thr
XM_017014453.1:c.782T>C (FANCC)	XP_016869942.1:p.Met261Thr
XM_017014454.1:c.617T>C (FANCC)	XP_016869943.1:p.Met206Thr
XM_024447451.1:c.1238T>C (FANCC)	XP_024303219.1:p.Met413Thr
NM_000136.3:c.1238T>C (FANCC) MANE Select	NP_000127.2:p.Met413Thr
NM_001243743.2:c.1238T>C (FANCC)	NP_001230672.1:p.Met413Thr
NM_001243744.2:c.1238T>C (FANCC)	NP_001230673.1:p.Met413Thr