Canonical Allele Identifier: CA10634156

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 367582
• ClinVar RCV Id: RCV000267658
• dbSNP Id: rs4647557
• gnomAD v3: 9-95099980-A-G
• gnomAD v4: 9-95099980-A-G
• MyVariant Identifiers: chr9:g.97862262A>G (hg19) ; chr9:g.95099980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95099980A>G , CM000671.2:g.95099980A>G	GRCh38
NC_000009.11:g.97862262A>G , CM000671.1:g.97862262A>G	GRCh37
NC_000009.10:g.96902083A>G	NCBI36
NG_011707.1:g.222730T>C , LRG_497:g.222730T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+19200A>G (AOPEP)
ENST00000696260.1:n.4219T>C (FANCC)
ENST00000289081.8:c.*1727T>C (FANCC) MANE Select	ENSP00000289081.3:n.*1727T>C
ENST00000375305.6:c.*1727T>C (FANCC)	ENSP00000364454.1:n.*1727T>C
ENST00000289081.7:c.*1727T>C (FANCC)	ENSP00000289081.3:n.*1727T>C
ENST00000375305.5:c.*1727T>C (FANCC)	ENSP00000364454.1:n.*1727T>C
NM_000136.2:c.*1727T>C , LRG_497t1:c.*1727T>C (FANCC)	NP_000127.2:n.*1727T>C
NM_001243743.1:c.*1727T>C (FANCC)	NP_001230672.1:n.*1727T>C
XM_011519121.1:c.2319+19200A>G (AOPEP)	XP_011517423.1:n.2319+19200A>G
XM_011519121.3:c.2319+19200A>G (AOPEP)	XP_011517423.1:n.2319+19200A>G
NM_000136.3:c.*1727T>C (FANCC) MANE Select	NP_000127.2:n.*1727T>C
NM_001243743.2:c.*1727T>C (FANCC)	NP_001230672.1:n.*1727T>C