Canonical Allele Identifier: CA374340257

Gene: FANCC

Linked Data

• ClinVar Variation Id: 1468840
• ClinVar RCV Id: RCV001970758
• dbSNP Id: rs2136100589
• MyVariant Identifiers: chr9:g.98011440A>C (hg19) ; chr9:g.95249158A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95249158A>C , CM000671.2:g.95249158A>C	GRCh38
NC_000009.11:g.98011440A>C , CM000671.1:g.98011440A>C	GRCh37
NC_000009.10:g.97051261A>C	NCBI36
NG_011707.1:g.73552T>G , LRG_497:g.73552T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.380T>G
ENST00000696262.1:c.134T>G	ENSP00000512510.1:p.Leu45Arg
ENST00000696263.1:n.389T>G
ENST00000289081.8:c.134T>G MANE Select	ENSP00000289081.3:p.Leu45Arg
ENST00000375305.6:c.134T>G	ENSP00000364454.1:p.Leu45Arg
ENST00000490972.7:c.134T>G	ENSP00000479931.1:p.Leu45Arg
ENST00000636777.1:n.192T>G
ENST00000647778.1:c.134T>G	ENSP00000498125.1:p.Leu45Arg
ENST00000647882.1:c.134T>G	ENSP00000497025.1:p.Leu45Arg
ENST00000648415.1:n.1772T>G
ENST00000649334.1:c.134T>G	ENSP00000497735.1:p.Leu45Arg
ENST00000649519.1:c.134T>G	ENSP00000497630.1:p.Leu45Arg
ENST00000649611.1:c.134T>G	ENSP00000497986.1:p.Leu45Arg
ENST00000649872.1:c.134T>G	ENSP00000497195.1:p.Leu45Arg
ENST00000650176.1:n.314T>G
ENST00000289081.7:c.134T>G	ENSP00000289081.3:p.Leu45Arg
ENST00000375305.5:c.134T>G	ENSP00000364454.1:p.Leu45Arg
ENST00000433829.1:c.134T>G	ENSP00000406908.1:p.Leu45Arg
ENST00000474949.1:n.396T>G
ENST00000490972.6:c.134T>G	ENSP00000479931.1:p.Leu45Arg
NM_000136.2:c.134T>G , LRG_497t1:c.134T>G	NP_000127.2:p.Leu45Arg
NM_001243743.1:c.134T>G	NP_001230672.1:p.Leu45Arg
NM_001243744.1:c.134T>G	NP_001230673.1:p.Leu45Arg
XM_006717001.1:c.134T>G	XP_006717064.1:p.Leu45Arg
XM_006717002.2:c.134T>G	XP_006717065.1:p.Leu45Arg
XM_006717004.2:c.134T>G	XP_006717067.1:p.Leu45Arg
XM_011518365.1:c.134T>G	XP_011516667.1:p.Leu45Arg
XM_011518366.1:c.134T>G	XP_011516668.1:p.Leu45Arg
XM_011518367.1:c.-468T>G	XP_011516669.1:n.-468T>G
XM_006717001.3:c.134T>G	XP_006717064.1:p.Leu45Arg
XM_006717002.4:c.134T>G	XP_006717065.1:p.Leu45Arg
XM_006717004.4:c.134T>G	XP_006717067.1:p.Leu45Arg
XM_011518365.3:c.134T>G	XP_011516667.1:p.Leu45Arg
XM_011518366.3:c.134T>G	XP_011516668.1:p.Leu45Arg
XM_011518367.2:c.-468T>G	XP_011516669.1:n.-468T>G
XM_017014452.2:c.-468T>G	XP_016869941.1:n.-468T>G
XM_017014453.1:c.-468T>G	XP_016869942.1:n.-468T>G
XM_017014454.1:c.-468T>G	XP_016869943.1:n.-468T>G
XM_024447451.1:c.134T>G	XP_024303219.1:p.Leu45Arg
NM_000136.3:c.134T>G MANE Select	NP_000127.2:p.Leu45Arg
NM_001243743.2:c.134T>G	NP_001230672.1:p.Leu45Arg
NM_001243744.2:c.134T>G	NP_001230673.1:p.Leu45Arg