Canonical Allele Identifier: CA5137850

Gene: FANCC

Linked Data

• ClinVar Variation Id: 802498
• ClinVar RCV Id: RCV000988228
• dbSNP Id: rs527289778
• ExAC: 9:98011557 A / G
• gnomAD v2: 9-98011557-A-G
• gnomAD v3: 9-95249275-A-G
• gnomAD v4: 9-95249275-A-G
• MyVariant Identifiers: chr9:g.98011557A>G (hg19) ; chr9:g.95249275A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95249275A>G , CM000671.2:g.95249275A>G	GRCh38
NC_000009.11:g.98011557A>G , CM000671.1:g.98011557A>G	GRCh37
NC_000009.10:g.97051378A>G	NCBI36
NG_011707.1:g.73435T>C , LRG_497:g.73435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.263T>C
ENST00000696262.1:c.17T>C	ENSP00000512510.1:p.Val6Ala
ENST00000696263.1:n.272T>C
ENST00000289081.8:c.17T>C MANE Select	ENSP00000289081.3:p.Val6Ala
ENST00000375305.6:c.17T>C	ENSP00000364454.1:p.Val6Ala
ENST00000490972.7:c.17T>C	ENSP00000479931.1:p.Val6Ala
ENST00000636777.1:n.75T>C
ENST00000647778.1:c.17T>C	ENSP00000498125.1:p.Val6Ala
ENST00000647882.1:c.17T>C	ENSP00000497025.1:p.Val6Ala
ENST00000648415.1:n.1655T>C
ENST00000649334.1:c.17T>C	ENSP00000497735.1:p.Val6Ala
ENST00000649519.1:c.17T>C	ENSP00000497630.1:p.Val6Ala
ENST00000649611.1:c.17T>C	ENSP00000497986.1:p.Val6Ala
ENST00000649872.1:c.17T>C	ENSP00000497195.1:p.Val6Ala
ENST00000650176.1:n.197T>C
ENST00000289081.7:c.17T>C	ENSP00000289081.3:p.Val6Ala
ENST00000375305.5:c.17T>C	ENSP00000364454.1:p.Val6Ala
ENST00000433829.1:c.17T>C	ENSP00000406908.1:p.Val6Ala
ENST00000474949.1:n.279T>C
ENST00000490972.6:c.17T>C	ENSP00000479931.1:p.Val6Ala
NM_000136.2:c.17T>C , LRG_497t1:c.17T>C	NP_000127.2:p.Val6Ala
NM_001243743.1:c.17T>C	NP_001230672.1:p.Val6Ala
NM_001243744.1:c.17T>C	NP_001230673.1:p.Val6Ala
XM_006717001.1:c.17T>C	XP_006717064.1:p.Val6Ala
XM_006717002.2:c.17T>C	XP_006717065.1:p.Val6Ala
XM_006717004.2:c.17T>C	XP_006717067.1:p.Val6Ala
XM_011518365.1:c.17T>C	XP_011516667.1:p.Val6Ala
XM_011518366.1:c.17T>C	XP_011516668.1:p.Val6Ala
XM_011518367.1:c.-585T>C	XP_011516669.1:n.-585T>C
XM_006717001.3:c.17T>C	XP_006717064.1:p.Val6Ala
XM_006717002.4:c.17T>C	XP_006717065.1:p.Val6Ala
XM_006717004.4:c.17T>C	XP_006717067.1:p.Val6Ala
XM_011518365.3:c.17T>C	XP_011516667.1:p.Val6Ala
XM_011518366.3:c.17T>C	XP_011516668.1:p.Val6Ala
XM_011518367.2:c.-585T>C	XP_011516669.1:n.-585T>C
XM_017014452.2:c.-585T>C	XP_016869941.1:n.-585T>C
XM_017014453.1:c.-585T>C	XP_016869942.1:n.-585T>C
XM_017014454.1:c.-585T>C	XP_016869943.1:n.-585T>C
XM_024447451.1:c.17T>C	XP_024303219.1:p.Val6Ala
NM_000136.3:c.17T>C MANE Select	NP_000127.2:p.Val6Ala
NM_001243743.2:c.17T>C	NP_001230672.1:p.Val6Ala
NM_001243744.2:c.17T>C	NP_001230673.1:p.Val6Ala