Canonical Allele Identifier: CA374105780

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 571161
• ClinVar RCV Id: RCV000692215 ; RCV002388236 ; RCV003322809 ; RCV002060874
• dbSNP Id: rs1415434775
• gnomAD v3: 9-95107135-C-G
• gnomAD v4: 9-95107135-C-G
• MyVariant Identifiers: chr9:g.97869417C>G (hg19) ; chr9:g.95107135C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107135C>G , CM000671.2:g.95107135C>G	GRCh38
NC_000009.11:g.97869417C>G , CM000671.1:g.97869417C>G	GRCh37
NC_000009.10:g.96909238C>G	NCBI36
NG_011707.1:g.215575G>C , LRG_497:g.215575G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26355C>G (AOPEP)
ENST00000696260.1:n.2279G>C (FANCC)
ENST00000289081.8:c.1464G>C (FANCC) MANE Select	ENSP00000289081.3:p.Arg488Ser
ENST00000375305.6:c.1464G>C (FANCC)	ENSP00000364454.1:p.Arg488Ser
ENST00000649334.1:c.1609G>C (FANCC)	ENSP00000497735.1:n.1609G>C
ENST00000289081.7:c.1464G>C (FANCC)	ENSP00000289081.3:p.Arg488Ser
ENST00000375305.5:c.1464G>C (FANCC)	ENSP00000364454.1:p.Arg488Ser
ENST00000464627.5:n.791G>C (FANCC)
NM_000136.2:c.1464G>C , LRG_497t1:c.1464G>C (FANCC)	NP_000127.2:p.Arg488Ser
NM_001243743.1:c.1464G>C (FANCC)	NP_001230672.1:p.Arg488Ser
XM_005251802.2:c.783G>C (FANCC)	XP_005251859.1:p.Arg261Ser
XM_006717001.1:c.1299G>C (FANCC)	XP_006717064.1:p.Arg433Ser
XM_011518365.1:c.1464G>C (FANCC)	XP_011516667.1:p.Arg488Ser
XM_011518367.1:c.1008G>C (FANCC)	XP_011516669.1:p.Arg336Ser
XM_011519121.1:c.2319+26355C>G (AOPEP)	XP_011517423.1:n.2319+26355C>G
XM_005251802.3:c.783G>C (FANCC)	XP_005251859.1:p.Arg261Ser
XM_006717001.3:c.1299G>C (FANCC)	XP_006717064.1:p.Arg433Ser
XM_011518365.3:c.1464G>C (FANCC)	XP_011516667.1:p.Arg488Ser
XM_011518367.2:c.1008G>C (FANCC)	XP_011516669.1:p.Arg336Ser
XM_011519121.3:c.2319+26355C>G (AOPEP)	XP_011517423.1:n.2319+26355C>G
XM_017014452.2:c.1008G>C (FANCC)	XP_016869941.1:p.Arg336Ser
XM_017014453.1:c.1008G>C (FANCC)	XP_016869942.1:p.Arg336Ser
XM_017014454.1:c.843G>C (FANCC)	XP_016869943.1:p.Arg281Ser
XM_024447451.1:c.1464G>C (FANCC)	XP_024303219.1:p.Arg488Ser
XR_001746847.1:n.553C>G
NM_000136.3:c.1464G>C (FANCC) MANE Select	NP_000127.2:p.Arg488Ser
NM_001243743.2:c.1464G>C (FANCC)	NP_001230672.1:p.Arg488Ser