Canonical Allele Identifier: CA196885560

Gene: FANCC

Linked Data

• ClinVar Variation Id: 1300396
• ClinVar RCV Id: RCV001732365 ; RCV002343807 ; RCV002488492 ; RCV002539805
• dbSNP Id: rs950623649
• gnomAD v2: 9-97933391-T-G
• gnomAD v3: 9-95171109-T-G
• gnomAD v4: 9-95171109-T-G
• MyVariant Identifiers: chr9:g.97933391T>G (hg19) ; chr9:g.97933391_97933395delinsGTCTC (hg19) ; chr9:g.95171109T>G (hg38) ; chr9:g.95171109_95171113delinsGTCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171109T>G , CM000671.2:g.95171109T>G	GRCh38
NC_000009.11:g.97933391T>G , CM000671.1:g.97933391T>G	GRCh37
NC_000009.10:g.96973212T>G	NCBI36
NG_011707.1:g.151601A>C , LRG_497:g.151601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.882A>C
ENST00000289081.8:c.491A>C MANE Select	ENSP00000289081.3:p.Asn164Thr
ENST00000375305.6:c.491A>C	ENSP00000364454.1:p.Asn164Thr
ENST00000490972.7:c.491A>C	ENSP00000479931.1:p.Asn164Thr
ENST00000636777.1:n.549A>C
ENST00000649334.1:c.636A>C	ENSP00000497735.1:n.636A>C
ENST00000649701.1:n.206A>C
ENST00000289081.7:c.491A>C	ENSP00000289081.3:p.Asn164Thr
ENST00000375305.5:c.491A>C	ENSP00000364454.1:p.Asn164Thr
ENST00000490972.6:c.491A>C	ENSP00000479931.1:p.Asn164Thr
NM_000136.2:c.491A>C , LRG_497t1:c.491A>C	NP_000127.2:p.Asn164Thr
NM_001243743.1:c.491A>C	NP_001230672.1:p.Asn164Thr
NM_001243744.1:c.491A>C	NP_001230673.1:p.Asn164Thr
XM_006717001.1:c.491A>C	XP_006717064.1:p.Asn164Thr
XM_006717002.2:c.491A>C	XP_006717065.1:p.Asn164Thr
XM_006717004.2:c.491A>C	XP_006717067.1:p.Asn164Thr
XM_011518365.1:c.491A>C	XP_011516667.1:p.Asn164Thr
XM_011518366.1:c.491A>C	XP_011516668.1:p.Asn164Thr
XM_011518367.1:c.35A>C	XP_011516669.1:p.Asn12Thr
XM_006717001.3:c.491A>C	XP_006717064.1:p.Asn164Thr
XM_006717002.4:c.491A>C	XP_006717065.1:p.Asn164Thr
XM_006717004.4:c.491A>C	XP_006717067.1:p.Asn164Thr
XM_011518365.3:c.491A>C	XP_011516667.1:p.Asn164Thr
XM_011518366.3:c.491A>C	XP_011516668.1:p.Asn164Thr
XM_011518367.2:c.35A>C	XP_011516669.1:p.Asn12Thr
XM_017014452.2:c.35A>C	XP_016869941.1:p.Asn12Thr
XM_017014453.1:c.35A>C	XP_016869942.1:p.Asn12Thr
XM_017014454.1:c.35A>C	XP_016869943.1:p.Asn12Thr
XM_024447451.1:c.491A>C	XP_024303219.1:p.Asn164Thr
NM_000136.3:c.491A>C MANE Select	NP_000127.2:p.Asn164Thr
NM_001243743.2:c.491A>C	NP_001230672.1:p.Asn164Thr
NM_001243744.2:c.491A>C	NP_001230673.1:p.Asn164Thr