Canonical Allele Identifier: CA374338635

Gene: FANCC

Linked Data

• ClinVar Variation Id: 1743099
• ClinVar RCV Id: RCV002330709
• dbSNP Id: rs1233503754
• MyVariant Identifiers: chr9:g.97933404C>G (hg19) ; chr9:g.95171122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171122C>G , CM000671.2:g.95171122C>G	GRCh38
NC_000009.11:g.97933404C>G , CM000671.1:g.97933404C>G	GRCh37
NC_000009.10:g.96973225C>G	NCBI36
NG_011707.1:g.151588G>C , LRG_497:g.151588G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696261.1:n.869G>C
ENST00000289081.8:c.478G>C MANE Select	ENSP00000289081.3:p.Glu160Gln
ENST00000375305.6:c.478G>C	ENSP00000364454.1:p.Glu160Gln
ENST00000490972.7:c.478G>C	ENSP00000479931.1:p.Glu160Gln
ENST00000636777.1:n.536G>C
ENST00000649334.1:c.623G>C	ENSP00000497735.1:n.623G>C
ENST00000649701.1:n.193G>C
ENST00000289081.7:c.478G>C	ENSP00000289081.3:p.Glu160Gln
ENST00000375305.5:c.478G>C	ENSP00000364454.1:p.Glu160Gln
ENST00000474949.1:n.835G>C
ENST00000490972.6:c.478G>C	ENSP00000479931.1:p.Glu160Gln
NM_000136.2:c.478G>C , LRG_497t1:c.478G>C	NP_000127.2:p.Glu160Gln
NM_001243743.1:c.478G>C	NP_001230672.1:p.Glu160Gln
NM_001243744.1:c.478G>C	NP_001230673.1:p.Glu160Gln
XM_006717001.1:c.478G>C	XP_006717064.1:p.Glu160Gln
XM_006717002.2:c.478G>C	XP_006717065.1:p.Glu160Gln
XM_006717004.2:c.478G>C	XP_006717067.1:p.Glu160Gln
XM_011518365.1:c.478G>C	XP_011516667.1:p.Glu160Gln
XM_011518366.1:c.478G>C	XP_011516668.1:p.Glu160Gln
XM_011518367.1:c.22G>C	XP_011516669.1:p.Glu8Gln
XM_006717001.3:c.478G>C	XP_006717064.1:p.Glu160Gln
XM_006717002.4:c.478G>C	XP_006717065.1:p.Glu160Gln
XM_006717004.4:c.478G>C	XP_006717067.1:p.Glu160Gln
XM_011518365.3:c.478G>C	XP_011516667.1:p.Glu160Gln
XM_011518366.3:c.478G>C	XP_011516668.1:p.Glu160Gln
XM_011518367.2:c.22G>C	XP_011516669.1:p.Glu8Gln
XM_017014452.2:c.22G>C	XP_016869941.1:p.Glu8Gln
XM_017014453.1:c.22G>C	XP_016869942.1:p.Glu8Gln
XM_017014454.1:c.22G>C	XP_016869943.1:p.Glu8Gln
XM_024447451.1:c.478G>C	XP_024303219.1:p.Glu160Gln
NM_000136.3:c.478G>C MANE Select	NP_000127.2:p.Glu160Gln
NM_001243743.2:c.478G>C	NP_001230672.1:p.Glu160Gln
NM_001243744.2:c.478G>C	NP_001230673.1:p.Glu160Gln