Canonical Allele Identifier: CA5137635

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1384894
• ClinVar RCV Id: RCV001897846
• dbSNP Id: rs767634640
• ExAC: 9:97897707 A / G
• gnomAD v2: 9-97897707-A-G
• gnomAD v4: 9-95135425-A-G
• MyVariant Identifiers: chr9:g.97897707A>G (hg19) ; chr9:g.95135425A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135425A>G , CM000671.2:g.95135425A>G	GRCh38
NC_000009.11:g.97897707A>G , CM000671.1:g.97897707A>G	GRCh37
NC_000009.10:g.96937528A>G	NCBI36
NG_011707.1:g.187285T>C , LRG_497:g.187285T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-11786A>G (AOPEP)
ENST00000696261.1:n.1155T>C (FANCC)
ENST00000289081.8:c.764T>C (FANCC) MANE Select	ENSP00000289081.3:p.Leu255Pro
ENST00000375305.6:c.764T>C (FANCC)	ENSP00000364454.1:p.Leu255Pro
ENST00000490972.7:c.764T>C (FANCC)	ENSP00000479931.1:p.Leu255Pro
ENST00000649334.1:c.909T>C (FANCC)	ENSP00000497735.1:n.909T>C
ENST00000649701.1:n.479T>C (FANCC)
ENST00000289081.7:c.764T>C (FANCC)	ENSP00000289081.3:p.Leu255Pro
ENST00000375305.5:c.764T>C (FANCC)	ENSP00000364454.1:p.Leu255Pro
ENST00000477942.5:n.119T>C (FANCC)
ENST00000490972.6:c.764T>C (FANCC)	ENSP00000479931.1:p.Leu255Pro
NM_000136.2:c.764T>C , LRG_497t1:c.764T>C (FANCC)	NP_000127.2:p.Leu255Pro
NM_001243743.1:c.764T>C (FANCC)	NP_001230672.1:p.Leu255Pro
NM_001243744.1:c.764T>C (FANCC)	NP_001230673.1:p.Leu255Pro
XM_005251802.2:c.83T>C (FANCC)	XP_005251859.1:p.Leu28Pro
XM_006717001.1:c.599T>C (FANCC)	XP_006717064.1:p.Leu200Pro
XM_006717002.2:c.764T>C (FANCC)	XP_006717065.1:p.Leu255Pro
XM_006717004.2:c.764T>C (FANCC)	XP_006717067.1:p.Leu255Pro
XM_011518365.1:c.764T>C (FANCC)	XP_011516667.1:p.Leu255Pro
XM_011518366.1:c.764T>C (FANCC)	XP_011516668.1:p.Leu255Pro
XM_011518367.1:c.308T>C (FANCC)	XP_011516669.1:p.Leu103Pro
XM_011519121.1:c.2320-11786A>G (AOPEP)	XP_011517423.1:n.2320-11786A>G
XM_005251802.3:c.83T>C (FANCC)	XP_005251859.1:p.Leu28Pro
XM_006717001.3:c.599T>C (FANCC)	XP_006717064.1:p.Leu200Pro
XM_006717002.4:c.764T>C (FANCC)	XP_006717065.1:p.Leu255Pro
XM_006717004.4:c.764T>C (FANCC)	XP_006717067.1:p.Leu255Pro
XM_011518365.3:c.764T>C (FANCC)	XP_011516667.1:p.Leu255Pro
XM_011518366.3:c.764T>C (FANCC)	XP_011516668.1:p.Leu255Pro
XM_011518367.2:c.308T>C (FANCC)	XP_011516669.1:p.Leu103Pro
XM_011519121.3:c.2320-11786A>G (AOPEP)	XP_011517423.1:n.2320-11786A>G
XM_017014452.2:c.308T>C (FANCC)	XP_016869941.1:p.Leu103Pro
XM_017014453.1:c.308T>C (FANCC)	XP_016869942.1:p.Leu103Pro
XM_017014454.1:c.143T>C (FANCC)	XP_016869943.1:p.Leu48Pro
XM_024447451.1:c.764T>C (FANCC)	XP_024303219.1:p.Leu255Pro
NM_000136.3:c.764T>C (FANCC) MANE Select	NP_000127.2:p.Leu255Pro
NM_001243743.2:c.764T>C (FANCC)	NP_001230672.1:p.Leu255Pro
NM_001243744.2:c.764T>C (FANCC)	NP_001230673.1:p.Leu255Pro