Canonical Allele Identifier: CA915947037

Gene: FANCC

Linked Data

• ClinVar Variation Id: 649429
• ClinVar RCV Id: RCV000804363 ; RCV002336630 ; RCV003467402
• dbSNP Id: rs1588218493
• gnomAD v4: 9-95171092-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171095del , CM000671.2:g.95171095del	GRCh38
NC_000009.11:g.97933377del , CM000671.1:g.97933377del	GRCh37
NC_000009.10:g.96973198del	NCBI36
NG_011707.1:g.151617del , LRG_497:g.151617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.898del
ENST00000289081.8:c.507del MANE Select	ENSP00000289081.3:p.Phe169LeufsTer25
ENST00000375305.6:c.507del	ENSP00000364454.1:p.Phe169LeufsTer25
ENST00000490972.7:c.507del	ENSP00000479931.1:p.Phe169LeufsTer25
ENST00000636777.1:n.565del
ENST00000649334.1:c.652del	ENSP00000497735.1:n.652del
ENST00000649701.1:n.222del
ENST00000289081.7:c.507del	ENSP00000289081.3:p.Phe169LeufsTer25
ENST00000375305.5:c.507del	ENSP00000364454.1:p.Phe169LeufsTer25
ENST00000490972.6:c.507del	ENSP00000479931.1:p.Phe169LeufsTer25
NM_000136.2:c.507del , LRG_497t1:c.507del	NP_000127.2:p.Phe169LeufsTer25
NM_001243743.1:c.507del	NP_001230672.1:p.Phe169LeufsTer25
NM_001243744.1:c.507del	NP_001230673.1:p.Phe169LeufsTer25
XM_006717001.1:c.507del	XP_006717064.1:p.Phe169LeufsTer16
XM_006717002.2:c.507del	XP_006717065.1:p.Phe169LeufsTer25
XM_006717004.2:c.507del	XP_006717067.1:p.Phe169LeufsTer25
XM_011518365.1:c.507del	XP_011516667.1:p.Phe169LeufsTer25
XM_011518366.1:c.507del	XP_011516668.1:p.Phe169LeufsTer25
XM_011518367.1:c.51del	XP_011516669.1:p.Phe17LeufsTer25
XM_006717001.3:c.507del	XP_006717064.1:p.Phe169LeufsTer16
XM_006717002.4:c.507del	XP_006717065.1:p.Phe169LeufsTer25
XM_006717004.4:c.507del	XP_006717067.1:p.Phe169LeufsTer25
XM_011518365.3:c.507del	XP_011516667.1:p.Phe169LeufsTer25
XM_011518366.3:c.507del	XP_011516668.1:p.Phe169LeufsTer25
XM_011518367.2:c.51del	XP_011516669.1:p.Phe17LeufsTer25
XM_017014452.2:c.51del	XP_016869941.1:p.Phe17LeufsTer25
XM_017014453.1:c.51del	XP_016869942.1:p.Phe17LeufsTer25
XM_017014454.1:c.51del	XP_016869943.1:p.Phe17LeufsTer16
XM_024447451.1:c.507del	XP_024303219.1:p.Phe169LeufsTer25
NM_000136.3:c.507del MANE Select	NP_000127.2:p.Phe169LeufsTer25
NM_001243743.2:c.507del	NP_001230672.1:p.Phe169LeufsTer25
NM_001243744.2:c.507del	NP_001230673.1:p.Phe169LeufsTer25