Canonical Allele Identifier: CA374106199

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1771209
• ClinVar RCV Id: RCV002381087
• dbSNP Id: rs1263559065
• gnomAD v3: 9-95107221-T-C
• gnomAD v4: 9-95107221-T-C
• MyVariant Identifiers: chr9:g.97869503T>C (hg19) ; chr9:g.95107221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107221T>C , CM000671.2:g.95107221T>C	GRCh38
NC_000009.11:g.97869503T>C , CM000671.1:g.97869503T>C	GRCh37
NC_000009.10:g.96909324T>C	NCBI36
NG_011707.1:g.215489A>G , LRG_497:g.215489A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+26441T>C (AOPEP)
ENST00000696260.1:n.2193A>G (FANCC)
ENST00000289081.8:c.1378A>G (FANCC) MANE Select	ENSP00000289081.3:p.Ser460Gly
ENST00000375305.6:c.1378A>G (FANCC)	ENSP00000364454.1:p.Ser460Gly
ENST00000649334.1:c.1523A>G (FANCC)	ENSP00000497735.1:n.1523A>G
ENST00000289081.7:c.1378A>G (FANCC)	ENSP00000289081.3:p.Ser460Gly
ENST00000375305.5:c.1378A>G (FANCC)	ENSP00000364454.1:p.Ser460Gly
ENST00000464627.5:n.705A>G (FANCC)
NM_000136.2:c.1378A>G , LRG_497t1:c.1378A>G (FANCC)	NP_000127.2:p.Ser460Gly
NM_001243743.1:c.1378A>G (FANCC)	NP_001230672.1:p.Ser460Gly
XM_005251802.2:c.697A>G (FANCC)	XP_005251859.1:p.Ser233Gly
XM_006717001.1:c.1213A>G (FANCC)	XP_006717064.1:p.Ser405Gly
XM_011518365.1:c.1378A>G (FANCC)	XP_011516667.1:p.Ser460Gly
XM_011518367.1:c.922A>G (FANCC)	XP_011516669.1:p.Ser308Gly
XM_011519121.1:c.2319+26441T>C (AOPEP)	XP_011517423.1:n.2319+26441T>C
XM_005251802.3:c.697A>G (FANCC)	XP_005251859.1:p.Ser233Gly
XM_006717001.3:c.1213A>G (FANCC)	XP_006717064.1:p.Ser405Gly
XM_011518365.3:c.1378A>G (FANCC)	XP_011516667.1:p.Ser460Gly
XM_011518367.2:c.922A>G (FANCC)	XP_011516669.1:p.Ser308Gly
XM_011519121.3:c.2319+26441T>C (AOPEP)	XP_011517423.1:n.2319+26441T>C
XM_017014452.2:c.922A>G (FANCC)	XP_016869941.1:p.Ser308Gly
XM_017014453.1:c.922A>G (FANCC)	XP_016869942.1:p.Ser308Gly
XM_017014454.1:c.757A>G (FANCC)	XP_016869943.1:p.Ser253Gly
XM_024447451.1:c.1378A>G (FANCC)	XP_024303219.1:p.Ser460Gly
XR_001746847.1:n.639T>C
NM_000136.3:c.1378A>G (FANCC) MANE Select	NP_000127.2:p.Ser460Gly
NM_001243743.2:c.1378A>G (FANCC)	NP_001230672.1:p.Ser460Gly