Canonical Allele Identifier: CA5137778

Gene: FANCC

Linked Data

• ClinVar Variation Id: 1730284
• ClinVar RCV Id: RCV002326460
• dbSNP Id: rs756057377
• ExAC: 9:98002944 T / C
• gnomAD v2: 9-98002944-T-C
• gnomAD v4: 9-95240662-T-C
• MyVariant Identifiers: chr9:g.98002944T>C (hg19) ; chr9:g.95240662T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95240662T>C , CM000671.2:g.95240662T>C	GRCh38
NC_000009.11:g.98002944T>C , CM000671.1:g.98002944T>C	GRCh37
NC_000009.10:g.97042765T>C	NCBI36
NG_011707.1:g.82048A>G , LRG_497:g.82048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.578A>G
ENST00000696262.1:c.332A>G	ENSP00000512510.1:p.Asn111Ser
ENST00000289081.8:c.332A>G MANE Select	ENSP00000289081.3:p.Asn111Ser
ENST00000375305.6:c.332A>G	ENSP00000364454.1:p.Asn111Ser
ENST00000490972.7:c.332A>G	ENSP00000479931.1:p.Asn111Ser
ENST00000636777.1:n.390A>G
ENST00000647778.1:c.332A>G	ENSP00000498125.1:p.Asn111Ser
ENST00000647882.1:c.332A>G	ENSP00000497025.1:p.Asn111Ser
ENST00000648415.1:n.1970A>G
ENST00000649334.1:c.332A>G	ENSP00000497735.1:p.Asn111Ser
ENST00000649519.1:c.332A>G	ENSP00000497630.1:p.Asn111Ser
ENST00000649701.1:n.47A>G
ENST00000649872.1:c.332A>G	ENSP00000497195.1:p.Asn111Ser
ENST00000650176.1:n.512A>G
ENST00000289081.7:c.332A>G	ENSP00000289081.3:p.Asn111Ser
ENST00000375305.5:c.332A>G	ENSP00000364454.1:p.Asn111Ser
ENST00000433829.1:c.332A>G	ENSP00000406908.1:p.Asn111Ser
ENST00000474949.1:n.594A>G
ENST00000490972.6:c.332A>G	ENSP00000479931.1:p.Asn111Ser
NM_000136.2:c.332A>G , LRG_497t1:c.332A>G	NP_000127.2:p.Asn111Ser
NM_001243743.1:c.332A>G	NP_001230672.1:p.Asn111Ser
NM_001243744.1:c.332A>G	NP_001230673.1:p.Asn111Ser
XM_006717001.1:c.332A>G	XP_006717064.1:p.Asn111Ser
XM_006717002.2:c.332A>G	XP_006717065.1:p.Asn111Ser
XM_006717004.2:c.332A>G	XP_006717067.1:p.Asn111Ser
XM_011518365.1:c.332A>G	XP_011516667.1:p.Asn111Ser
XM_011518366.1:c.332A>G	XP_011516668.1:p.Asn111Ser
XM_011518367.1:c.-270A>G	XP_011516669.1:n.-270A>G
XM_006717001.3:c.332A>G	XP_006717064.1:p.Asn111Ser
XM_006717002.4:c.332A>G	XP_006717065.1:p.Asn111Ser
XM_006717004.4:c.332A>G	XP_006717067.1:p.Asn111Ser
XM_011518365.3:c.332A>G	XP_011516667.1:p.Asn111Ser
XM_011518366.3:c.332A>G	XP_011516668.1:p.Asn111Ser
XM_011518367.2:c.-270A>G	XP_011516669.1:n.-270A>G
XM_017014452.2:c.-270A>G	XP_016869941.1:n.-270A>G
XM_017014453.1:c.-270A>G	XP_016869942.1:n.-270A>G
XM_017014454.1:c.-270A>G	XP_016869943.1:n.-270A>G
XM_024447451.1:c.332A>G	XP_024303219.1:p.Asn111Ser
NM_000136.3:c.332A>G MANE Select	NP_000127.2:p.Asn111Ser
NM_001243743.2:c.332A>G	NP_001230672.1:p.Asn111Ser
NM_001243744.2:c.332A>G	NP_001230673.1:p.Asn111Ser