Canonical Allele Identifier: CA374104836

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 2450931
• ClinVar RCV Id: RCV003177306
• MyVariant Identifiers: chr9:g.97864123T>G (hg19) ; chr9:g.95101841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101841T>G , CM000671.2:g.95101841T>G	GRCh38
NC_000009.11:g.97864123T>G , CM000671.1:g.97864123T>G	GRCh37
NC_000009.10:g.96903944T>G	NCBI36
NG_011707.1:g.220869A>C , LRG_497:g.220869A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+21061T>G (AOPEP)
ENST00000696260.1:n.2358A>C (FANCC)
ENST00000289081.8:c.1543A>C (FANCC) MANE Select	ENSP00000289081.3:p.Thr515Pro
ENST00000375305.6:c.1543A>C (FANCC)	ENSP00000364454.1:p.Thr515Pro
ENST00000649334.1:c.1688A>C (FANCC)	ENSP00000497735.1:n.1688A>C
ENST00000289081.7:c.1543A>C (FANCC)	ENSP00000289081.3:p.Thr515Pro
ENST00000375305.5:c.1543A>C (FANCC)	ENSP00000364454.1:p.Thr515Pro
NM_000136.2:c.1543A>C , LRG_497t1:c.1543A>C (FANCC)	NP_000127.2:p.Thr515Pro
NM_001243743.1:c.1543A>C (FANCC)	NP_001230672.1:p.Thr515Pro
XM_005251802.2:c.862A>C (FANCC)	XP_005251859.1:p.Thr288Pro
XM_006717001.1:c.1378A>C (FANCC)	XP_006717064.1:p.Thr460Pro
XM_011518365.1:c.1543A>C (FANCC)	XP_011516667.1:p.Thr515Pro
XM_011518367.1:c.1087A>C (FANCC)	XP_011516669.1:p.Thr363Pro
XM_011519121.1:c.2319+21061T>G (AOPEP)	XP_011517423.1:n.2319+21061T>G
XM_005251802.3:c.862A>C (FANCC)	XP_005251859.1:p.Thr288Pro
XM_006717001.3:c.1378A>C (FANCC)	XP_006717064.1:p.Thr460Pro
XM_011518365.3:c.1543A>C (FANCC)	XP_011516667.1:p.Thr515Pro
XM_011518367.2:c.1087A>C (FANCC)	XP_011516669.1:p.Thr363Pro
XM_011519121.3:c.2319+21061T>G (AOPEP)	XP_011517423.1:n.2319+21061T>G
XM_017014452.2:c.1087A>C (FANCC)	XP_016869941.1:p.Thr363Pro
XM_017014453.1:c.1087A>C (FANCC)	XP_016869942.1:p.Thr363Pro
XM_017014454.1:c.922A>C (FANCC)	XP_016869943.1:p.Thr308Pro
XM_024447451.1:c.1543A>C (FANCC)	XP_024303219.1:p.Thr515Pro
NM_000136.3:c.1543A>C (FANCC) MANE Select	NP_000127.2:p.Thr515Pro
NM_001243743.2:c.1543A>C (FANCC)	NP_001230672.1:p.Thr515Pro