Canonical Allele Identifier: CA5137749

Gene: FANCC

Linked Data

• ClinVar Variation Id: 2446649
• ClinVar RCV Id: RCV003159479
• dbSNP Id: rs759978888
• ExAC: 9:97934346 T / C
• gnomAD v2: 9-97934346-T-C
• MyVariant Identifiers: chr9:g.97934346T>C (hg19) ; chr9:g.95172064T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95172064T>C , CM000671.2:g.95172064T>C	GRCh38
NC_000009.11:g.97934346T>C , CM000671.1:g.97934346T>C	GRCh37
NC_000009.10:g.96974167T>C	NCBI36
NG_011707.1:g.150646A>G , LRG_497:g.150646A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.820A>G
ENST00000289081.8:c.429A>G MANE Select	ENSP00000289081.3:p.Ile143Met
ENST00000375305.6:c.429A>G	ENSP00000364454.1:p.Ile143Met
ENST00000490972.7:c.429A>G	ENSP00000479931.1:p.Ile143Met
ENST00000636777.1:n.487A>G
ENST00000647778.1:c.429A>G	ENSP00000498125.1:p.Ile143Met
ENST00000649334.1:c.574A>G	ENSP00000497735.1:n.574A>G
ENST00000649701.1:n.144A>G
ENST00000289081.7:c.429A>G	ENSP00000289081.3:p.Ile143Met
ENST00000375305.5:c.429A>G	ENSP00000364454.1:p.Ile143Met
ENST00000433829.1:c.429A>G	ENSP00000406908.1:p.Ile143Met
ENST00000474949.1:n.786A>G
ENST00000490972.6:c.429A>G	ENSP00000479931.1:p.Ile143Met
NM_000136.2:c.429A>G , LRG_497t1:c.429A>G	NP_000127.2:p.Ile143Met
NM_001243743.1:c.429A>G	NP_001230672.1:p.Ile143Met
NM_001243744.1:c.429A>G	NP_001230673.1:p.Ile143Met
XM_006717001.1:c.429A>G	XP_006717064.1:p.Ile143Met
XM_006717002.2:c.429A>G	XP_006717065.1:p.Ile143Met
XM_006717004.2:c.429A>G	XP_006717067.1:p.Ile143Met
XM_011518365.1:c.429A>G	XP_011516667.1:p.Ile143Met
XM_011518366.1:c.429A>G	XP_011516668.1:p.Ile143Met
XM_011518367.1:c.-28A>G	XP_011516669.1:n.-28A>G
XM_006717001.3:c.429A>G	XP_006717064.1:p.Ile143Met
XM_006717002.4:c.429A>G	XP_006717065.1:p.Ile143Met
XM_006717004.4:c.429A>G	XP_006717067.1:p.Ile143Met
XM_011518365.3:c.429A>G	XP_011516667.1:p.Ile143Met
XM_011518366.3:c.429A>G	XP_011516668.1:p.Ile143Met
XM_011518367.2:c.-28A>G	XP_011516669.1:n.-28A>G
XM_017014452.2:c.-28A>G	XP_016869941.1:n.-28A>G
XM_017014453.1:c.-28A>G	XP_016869942.1:n.-28A>G
XM_017014454.1:c.-28A>G	XP_016869943.1:n.-28A>G
XM_024447451.1:c.429A>G	XP_024303219.1:p.Ile143Met
NM_000136.3:c.429A>G MANE Select	NP_000127.2:p.Ile143Met
NM_001243743.2:c.429A>G	NP_001230672.1:p.Ile143Met
NM_001243744.2:c.429A>G	NP_001230673.1:p.Ile143Met