Canonical Allele Identifier: CA5137644

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1757962
• ClinVar RCV Id: RCV002382537
• dbSNP Id: rs747616510
• ExAC: 9:97897746 A / G
• gnomAD v2: 9-97897746-A-G
• gnomAD v4: 9-95135464-A-G
• MyVariant Identifiers: chr9:g.97897746A>G (hg19) ; chr9:g.95135464A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135464A>G , CM000671.2:g.95135464A>G	GRCh38
NC_000009.11:g.97897746A>G , CM000671.1:g.97897746A>G	GRCh37
NC_000009.10:g.96937567A>G	NCBI36
NG_011707.1:g.187246T>C , LRG_497:g.187246T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-11747A>G (AOPEP)
ENST00000696261.1:n.1116T>C (FANCC)
ENST00000289081.8:c.725T>C (FANCC) MANE Select	ENSP00000289081.3:p.Leu242Pro
ENST00000375305.6:c.725T>C (FANCC)	ENSP00000364454.1:p.Leu242Pro
ENST00000490972.7:c.725T>C (FANCC)	ENSP00000479931.1:p.Leu242Pro
ENST00000649334.1:c.870T>C (FANCC)	ENSP00000497735.1:n.870T>C
ENST00000649701.1:n.440T>C (FANCC)
ENST00000289081.7:c.725T>C (FANCC)	ENSP00000289081.3:p.Leu242Pro
ENST00000375305.5:c.725T>C (FANCC)	ENSP00000364454.1:p.Leu242Pro
ENST00000477942.5:n.80T>C (FANCC)
ENST00000490972.6:c.725T>C (FANCC)	ENSP00000479931.1:p.Leu242Pro
NM_000136.2:c.725T>C , LRG_497t1:c.725T>C (FANCC)	NP_000127.2:p.Leu242Pro
NM_001243743.1:c.725T>C (FANCC)	NP_001230672.1:p.Leu242Pro
NM_001243744.1:c.725T>C (FANCC)	NP_001230673.1:p.Leu242Pro
XM_005251802.2:c.44T>C (FANCC)	XP_005251859.1:p.Leu15Pro
XM_006717001.1:c.560T>C (FANCC)	XP_006717064.1:p.Leu187Pro
XM_006717002.2:c.725T>C (FANCC)	XP_006717065.1:p.Leu242Pro
XM_006717004.2:c.725T>C (FANCC)	XP_006717067.1:p.Leu242Pro
XM_011518365.1:c.725T>C (FANCC)	XP_011516667.1:p.Leu242Pro
XM_011518366.1:c.725T>C (FANCC)	XP_011516668.1:p.Leu242Pro
XM_011518367.1:c.269T>C (FANCC)	XP_011516669.1:p.Leu90Pro
XM_011519121.1:c.2320-11747A>G (AOPEP)	XP_011517423.1:n.2320-11747A>G
XM_005251802.3:c.44T>C (FANCC)	XP_005251859.1:p.Leu15Pro
XM_006717001.3:c.560T>C (FANCC)	XP_006717064.1:p.Leu187Pro
XM_006717002.4:c.725T>C (FANCC)	XP_006717065.1:p.Leu242Pro
XM_006717004.4:c.725T>C (FANCC)	XP_006717067.1:p.Leu242Pro
XM_011518365.3:c.725T>C (FANCC)	XP_011516667.1:p.Leu242Pro
XM_011518366.3:c.725T>C (FANCC)	XP_011516668.1:p.Leu242Pro
XM_011518367.2:c.269T>C (FANCC)	XP_011516669.1:p.Leu90Pro
XM_011519121.3:c.2320-11747A>G (AOPEP)	XP_011517423.1:n.2320-11747A>G
XM_017014452.2:c.269T>C (FANCC)	XP_016869941.1:p.Leu90Pro
XM_017014453.1:c.269T>C (FANCC)	XP_016869942.1:p.Leu90Pro
XM_017014454.1:c.104T>C (FANCC)	XP_016869943.1:p.Leu35Pro
XM_024447451.1:c.725T>C (FANCC)	XP_024303219.1:p.Leu242Pro
NM_000136.3:c.725T>C (FANCC) MANE Select	NP_000127.2:p.Leu242Pro
NM_001243743.2:c.725T>C (FANCC)	NP_001230672.1:p.Leu242Pro
NM_001243744.2:c.725T>C (FANCC)	NP_001230673.1:p.Leu242Pro