Canonical Allele Identifier: CA16618872

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 418879
• ClinVar RCV Id: RCV000478964 ; RCV002395145 ; RCV002506160 ; RCV001042878
• dbSNP Id: rs1064793496
• gnomAD v2: 9-97864033-T-C
• gnomAD v3: 9-95101751-T-C
• gnomAD v4: 9-95101751-T-C
• MyVariant Identifiers: chr9:g.97864033T>C (hg19) ; chr9:g.95101751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101751T>C , CM000671.2:g.95101751T>C	GRCh38
NC_000009.11:g.97864033T>C , CM000671.1:g.97864033T>C	GRCh37
NC_000009.10:g.96903854T>C	NCBI36
NG_011707.1:g.220959A>G , LRG_497:g.220959A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+20971T>C (AOPEP)
ENST00000696260.1:n.2448A>G (FANCC)
ENST00000289081.8:c.1633A>G (FANCC) MANE Select	ENSP00000289081.3:p.Lys545Glu
ENST00000375305.6:c.1633A>G (FANCC)	ENSP00000364454.1:p.Lys545Glu
ENST00000649334.1:c.1778A>G (FANCC)	ENSP00000497735.1:n.1778A>G
ENST00000289081.7:c.1633A>G (FANCC)	ENSP00000289081.3:p.Lys545Glu
ENST00000375305.5:c.1633A>G (FANCC)	ENSP00000364454.1:p.Lys545Glu
NM_000136.2:c.1633A>G , LRG_497t1:c.1633A>G (FANCC)	NP_000127.2:p.Lys545Glu
NM_001243743.1:c.1633A>G (FANCC)	NP_001230672.1:p.Lys545Glu
XM_005251802.2:c.952A>G (FANCC)	XP_005251859.1:p.Lys318Glu
XM_006717001.1:c.1468A>G (FANCC)	XP_006717064.1:p.Lys490Glu
XM_011518365.1:c.1633A>G (FANCC)	XP_011516667.1:p.Lys545Glu
XM_011518367.1:c.1177A>G (FANCC)	XP_011516669.1:p.Lys393Glu
XM_011519121.1:c.2319+20971T>C (AOPEP)	XP_011517423.1:n.2319+20971T>C
XM_005251802.3:c.952A>G (FANCC)	XP_005251859.1:p.Lys318Glu
XM_006717001.3:c.1468A>G (FANCC)	XP_006717064.1:p.Lys490Glu
XM_011518365.3:c.1633A>G (FANCC)	XP_011516667.1:p.Lys545Glu
XM_011518367.2:c.1177A>G (FANCC)	XP_011516669.1:p.Lys393Glu
XM_011519121.3:c.2319+20971T>C (AOPEP)	XP_011517423.1:n.2319+20971T>C
XM_017014452.2:c.1177A>G (FANCC)	XP_016869941.1:p.Lys393Glu
XM_017014453.1:c.1177A>G (FANCC)	XP_016869942.1:p.Lys393Glu
XM_017014454.1:c.1012A>G (FANCC)	XP_016869943.1:p.Lys338Glu
XM_024447451.1:c.1633A>G (FANCC)	XP_024303219.1:p.Lys545Glu
NM_000136.3:c.1633A>G (FANCC) MANE Select	NP_000127.2:p.Lys545Glu
NM_001243743.2:c.1633A>G (FANCC)	NP_001230672.1:p.Lys545Glu