Canonical Allele Identifier: CA374108750

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1768523
• ClinVar RCV Id: RCV002387431
• MyVariant Identifiers: chr9:g.97887375C>G (hg19) ; chr9:g.95125093C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95125093C>G , CM000671.2:g.95125093C>G	GRCh38
NC_000009.11:g.97887375C>G , CM000671.1:g.97887375C>G	GRCh37
NC_000009.10:g.96927196C>G	NCBI36
NG_011707.1:g.197617G>C , LRG_497:g.197617G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-22118C>G (AOPEP)
ENST00000289081.8:c.989G>C (FANCC) MANE Select	ENSP00000289081.3:p.Ser330Thr
ENST00000375305.6:c.989G>C (FANCC)	ENSP00000364454.1:p.Ser330Thr
ENST00000490972.7:c.989G>C (FANCC)	ENSP00000479931.1:p.Ser330Thr
ENST00000649334.1:c.1134G>C (FANCC)	ENSP00000497735.1:n.1134G>C
ENST00000289081.7:c.989G>C (FANCC)	ENSP00000289081.3:p.Ser330Thr
ENST00000375305.5:c.989G>C (FANCC)	ENSP00000364454.1:p.Ser330Thr
ENST00000464627.5:n.316G>C (FANCC)
ENST00000464653.1:n.985G>C (FANCC)
ENST00000477942.5:n.344G>C (FANCC)
ENST00000480712.5:n.174G>C (FANCC)
ENST00000490972.6:c.989G>C (FANCC)	ENSP00000479931.1:p.Ser330Thr
NM_000136.2:c.989G>C , LRG_497t1:c.989G>C (FANCC)	NP_000127.2:p.Ser330Thr
NM_001243743.1:c.989G>C (FANCC)	NP_001230672.1:p.Ser330Thr
NM_001243744.1:c.989G>C (FANCC)	NP_001230673.1:p.Ser330Thr
XM_005251802.2:c.308G>C (FANCC)	XP_005251859.1:p.Ser103Thr
XM_006717001.1:c.824G>C (FANCC)	XP_006717064.1:p.Ser275Thr
XM_006717002.2:c.989G>C (FANCC)	XP_006717065.1:p.Ser330Thr
XM_006717004.2:c.989G>C (FANCC)	XP_006717067.1:p.Ser330Thr
XM_011518365.1:c.989G>C (FANCC)	XP_011516667.1:p.Ser330Thr
XM_011518366.1:c.989G>C (FANCC)	XP_011516668.1:p.Ser330Thr
XM_011518367.1:c.533G>C (FANCC)	XP_011516669.1:p.Ser178Thr
XM_011519121.1:c.2320-22118C>G (AOPEP)	XP_011517423.1:n.2320-22118C>G
XM_005251802.3:c.308G>C (FANCC)	XP_005251859.1:p.Ser103Thr
XM_006717001.3:c.824G>C (FANCC)	XP_006717064.1:p.Ser275Thr
XM_006717002.4:c.989G>C (FANCC)	XP_006717065.1:p.Ser330Thr
XM_006717004.4:c.989G>C (FANCC)	XP_006717067.1:p.Ser330Thr
XM_011518365.3:c.989G>C (FANCC)	XP_011516667.1:p.Ser330Thr
XM_011518366.3:c.989G>C (FANCC)	XP_011516668.1:p.Ser330Thr
XM_011518367.2:c.533G>C (FANCC)	XP_011516669.1:p.Ser178Thr
XM_011519121.3:c.2320-22118C>G (AOPEP)	XP_011517423.1:n.2320-22118C>G
XM_017014452.2:c.533G>C (FANCC)	XP_016869941.1:p.Ser178Thr
XM_017014453.1:c.533G>C (FANCC)	XP_016869942.1:p.Ser178Thr
XM_017014454.1:c.368G>C (FANCC)	XP_016869943.1:p.Ser123Thr
XM_024447451.1:c.989G>C (FANCC)	XP_024303219.1:p.Ser330Thr
NM_000136.3:c.989G>C (FANCC) MANE Select	NP_000127.2:p.Ser330Thr
NM_001243743.2:c.989G>C (FANCC)	NP_001230672.1:p.Ser330Thr
NM_001243744.2:c.989G>C (FANCC)	NP_001230673.1:p.Ser330Thr