Canonical Allele Identifier: CA287205

Gene: FANCC

Linked Data

• ClinVar Variation Id: 127538
• ClinVar RCV Id: RCV000233348 ; RCV000567825 ; RCV000656849 ; RCV000709097 ; RCV001358189 ; RCV001818266
• dbSNP Id: rs143152201
• ExAC: 9:98011545 C / T
• gnomAD v2: 9-98011545-C-T
• gnomAD v3: 9-95249263-C-T
• gnomAD v4: 9-95249263-C-T
• MyVariant Identifiers: chr9:g.98011545C>T (hg19) ; chr9:g.95249263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95249263C>T , CM000671.2:g.95249263C>T	GRCh38
NC_000009.11:g.98011545C>T , CM000671.1:g.98011545C>T	GRCh37
NC_000009.10:g.97051366C>T	NCBI36
NG_011707.1:g.73447G>A , LRG_497:g.73447G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696261.1:n.275G>A
ENST00000696262.1:c.29G>A	ENSP00000512510.1:p.Cys10Tyr
ENST00000696263.1:n.284G>A
ENST00000289081.8:c.29G>A MANE Select	ENSP00000289081.3:p.Cys10Tyr
ENST00000375305.6:c.29G>A	ENSP00000364454.1:p.Cys10Tyr
ENST00000490972.7:c.29G>A	ENSP00000479931.1:p.Cys10Tyr
ENST00000636777.1:n.87G>A
ENST00000647778.1:c.29G>A	ENSP00000498125.1:p.Cys10Tyr
ENST00000647882.1:c.29G>A	ENSP00000497025.1:p.Cys10Tyr
ENST00000648415.1:n.1667G>A
ENST00000649334.1:c.29G>A	ENSP00000497735.1:p.Cys10Tyr
ENST00000649519.1:c.29G>A	ENSP00000497630.1:p.Cys10Tyr
ENST00000649611.1:c.29G>A	ENSP00000497986.1:p.Cys10Tyr
ENST00000649872.1:c.29G>A	ENSP00000497195.1:p.Cys10Tyr
ENST00000650176.1:n.209G>A
ENST00000289081.7:c.29G>A	ENSP00000289081.3:p.Cys10Tyr
ENST00000375305.5:c.29G>A	ENSP00000364454.1:p.Cys10Tyr
ENST00000433829.1:c.29G>A	ENSP00000406908.1:p.Cys10Tyr
ENST00000474949.1:n.291G>A
ENST00000490972.6:c.29G>A	ENSP00000479931.1:p.Cys10Tyr
NM_000136.2:c.29G>A , LRG_497t1:c.29G>A	NP_000127.2:p.Cys10Tyr
NM_001243743.1:c.29G>A	NP_001230672.1:p.Cys10Tyr
NM_001243744.1:c.29G>A	NP_001230673.1:p.Cys10Tyr
XM_006717001.1:c.29G>A	XP_006717064.1:p.Cys10Tyr
XM_006717002.2:c.29G>A	XP_006717065.1:p.Cys10Tyr
XM_006717004.2:c.29G>A	XP_006717067.1:p.Cys10Tyr
XM_011518365.1:c.29G>A	XP_011516667.1:p.Cys10Tyr
XM_011518366.1:c.29G>A	XP_011516668.1:p.Cys10Tyr
XM_011518367.1:c.-573G>A	XP_011516669.1:n.-573G>A
XM_006717001.3:c.29G>A	XP_006717064.1:p.Cys10Tyr
XM_006717002.4:c.29G>A	XP_006717065.1:p.Cys10Tyr
XM_006717004.4:c.29G>A	XP_006717067.1:p.Cys10Tyr
XM_011518365.3:c.29G>A	XP_011516667.1:p.Cys10Tyr
XM_011518366.3:c.29G>A	XP_011516668.1:p.Cys10Tyr
XM_011518367.2:c.-573G>A	XP_011516669.1:n.-573G>A
XM_017014452.2:c.-573G>A	XP_016869941.1:n.-573G>A
XM_017014453.1:c.-573G>A	XP_016869942.1:n.-573G>A
XM_017014454.1:c.-573G>A	XP_016869943.1:n.-573G>A
XM_024447451.1:c.29G>A	XP_024303219.1:p.Cys10Tyr
NM_000136.3:c.29G>A MANE Select	NP_000127.2:p.Cys10Tyr
NM_001243743.2:c.29G>A	NP_001230672.1:p.Cys10Tyr
NM_001243744.2:c.29G>A	NP_001230673.1:p.Cys10Tyr