Canonical Allele Identifier: CA374104437

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 657126
• ClinVar RCV Id: RCV000813684
• dbSNP Id: rs1588008112
• gnomAD v4: 9-95101766-T-G
• MyVariant Identifiers: chr9:g.97864048T>G (hg19) ; chr9:g.95101766T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101766T>G , CM000671.2:g.95101766T>G	GRCh38
NC_000009.11:g.97864048T>G , CM000671.1:g.97864048T>G	GRCh37
NC_000009.10:g.96903869T>G	NCBI36
NG_011707.1:g.220944A>C , LRG_497:g.220944A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+20986T>G (AOPEP)
ENST00000696260.1:n.2433A>C (FANCC)
ENST00000289081.8:c.1618A>C (FANCC) MANE Select	ENSP00000289081.3:p.Ser540Arg
ENST00000375305.6:c.1618A>C (FANCC)	ENSP00000364454.1:p.Ser540Arg
ENST00000649334.1:c.1763A>C (FANCC)	ENSP00000497735.1:n.1763A>C
ENST00000289081.7:c.1618A>C (FANCC)	ENSP00000289081.3:p.Ser540Arg
ENST00000375305.5:c.1618A>C (FANCC)	ENSP00000364454.1:p.Ser540Arg
NM_000136.2:c.1618A>C , LRG_497t1:c.1618A>C (FANCC)	NP_000127.2:p.Ser540Arg
NM_001243743.1:c.1618A>C (FANCC)	NP_001230672.1:p.Ser540Arg
XM_005251802.2:c.937A>C (FANCC)	XP_005251859.1:p.Ser313Arg
XM_006717001.1:c.1453A>C (FANCC)	XP_006717064.1:p.Ser485Arg
XM_011518365.1:c.1618A>C (FANCC)	XP_011516667.1:p.Ser540Arg
XM_011518367.1:c.1162A>C (FANCC)	XP_011516669.1:p.Ser388Arg
XM_011519121.1:c.2319+20986T>G (AOPEP)	XP_011517423.1:n.2319+20986T>G
XM_005251802.3:c.937A>C (FANCC)	XP_005251859.1:p.Ser313Arg
XM_006717001.3:c.1453A>C (FANCC)	XP_006717064.1:p.Ser485Arg
XM_011518365.3:c.1618A>C (FANCC)	XP_011516667.1:p.Ser540Arg
XM_011518367.2:c.1162A>C (FANCC)	XP_011516669.1:p.Ser388Arg
XM_011519121.3:c.2319+20986T>G (AOPEP)	XP_011517423.1:n.2319+20986T>G
XM_017014452.2:c.1162A>C (FANCC)	XP_016869941.1:p.Ser388Arg
XM_017014453.1:c.1162A>C (FANCC)	XP_016869942.1:p.Ser388Arg
XM_017014454.1:c.997A>C (FANCC)	XP_016869943.1:p.Ser333Arg
XM_024447451.1:c.1618A>C (FANCC)	XP_024303219.1:p.Ser540Arg
NM_000136.3:c.1618A>C (FANCC) MANE Select	NP_000127.2:p.Ser540Arg
NM_001243743.2:c.1618A>C (FANCC)	NP_001230672.1:p.Ser540Arg