Canonical Allele Identifier: CA274137

Gene: FANCC

Linked Data

• ClinVar Variation Id: 188926
• ClinVar RCV Id: RCV000169293 ; RCV001390247 ; RCV003407628 ; RCV002362865
• dbSNP Id: rs377294947
• ExAC: 9:98011509 C / T
• gnomAD v2: 9-98011509-C-T
• gnomAD v3: 9-95249227-C-T
• gnomAD v4: 9-95249227-C-T
• MyVariant Identifiers: chr9:g.98011509C>T (hg19) ; chr9:g.95249227C>T (hg38)
• PubMed: PMID:8844212 ; PMID:17924555

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95249227C>T , CM000671.2:g.95249227C>T	GRCh38
NC_000009.11:g.98011509C>T , CM000671.1:g.98011509C>T	GRCh37
NC_000009.10:g.97051330C>T	NCBI36
NG_011707.1:g.73483G>A , LRG_497:g.73483G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.311G>A
ENST00000696262.1:c.65G>A	ENSP00000512510.1:p.Trp22Ter
ENST00000696263.1:n.320G>A
ENST00000289081.8:c.65G>A MANE Select	ENSP00000289081.3:p.Trp22Ter
ENST00000375305.6:c.65G>A	ENSP00000364454.1:p.Trp22Ter
ENST00000490972.7:c.65G>A	ENSP00000479931.1:p.Trp22Ter
ENST00000636777.1:n.123G>A
ENST00000647778.1:c.65G>A	ENSP00000498125.1:p.Trp22Ter
ENST00000647882.1:c.65G>A	ENSP00000497025.1:p.Trp22Ter
ENST00000648415.1:n.1703G>A
ENST00000649334.1:c.65G>A	ENSP00000497735.1:p.Trp22Ter
ENST00000649519.1:c.65G>A	ENSP00000497630.1:p.Trp22Ter
ENST00000649611.1:c.65G>A	ENSP00000497986.1:p.Trp22Ter
ENST00000649872.1:c.65G>A	ENSP00000497195.1:p.Trp22Ter
ENST00000650176.1:n.245G>A
ENST00000289081.7:c.65G>A	ENSP00000289081.3:p.Trp22Ter
ENST00000375305.5:c.65G>A	ENSP00000364454.1:p.Trp22Ter
ENST00000433829.1:c.65G>A	ENSP00000406908.1:p.Trp22Ter
ENST00000474949.1:n.327G>A
ENST00000490972.6:c.65G>A	ENSP00000479931.1:p.Trp22Ter
NM_000136.2:c.65G>A , LRG_497t1:c.65G>A	NP_000127.2:p.Trp22Ter
NM_001243743.1:c.65G>A	NP_001230672.1:p.Trp22Ter
NM_001243744.1:c.65G>A	NP_001230673.1:p.Trp22Ter
XM_006717001.1:c.65G>A	XP_006717064.1:p.Trp22Ter
XM_006717002.2:c.65G>A	XP_006717065.1:p.Trp22Ter
XM_006717004.2:c.65G>A	XP_006717067.1:p.Trp22Ter
XM_011518365.1:c.65G>A	XP_011516667.1:p.Trp22Ter
XM_011518366.1:c.65G>A	XP_011516668.1:p.Trp22Ter
XM_011518367.1:c.-537G>A	XP_011516669.1:n.-537G>A
XM_006717001.3:c.65G>A	XP_006717064.1:p.Trp22Ter
XM_006717002.4:c.65G>A	XP_006717065.1:p.Trp22Ter
XM_006717004.4:c.65G>A	XP_006717067.1:p.Trp22Ter
XM_011518365.3:c.65G>A	XP_011516667.1:p.Trp22Ter
XM_011518366.3:c.65G>A	XP_011516668.1:p.Trp22Ter
XM_011518367.2:c.-537G>A	XP_011516669.1:n.-537G>A
XM_017014452.2:c.-537G>A	XP_016869941.1:n.-537G>A
XM_017014453.1:c.-537G>A	XP_016869942.1:n.-537G>A
XM_017014454.1:c.-537G>A	XP_016869943.1:n.-537G>A
XM_024447451.1:c.65G>A	XP_024303219.1:p.Trp22Ter
NM_000136.3:c.65G>A MANE Select	NP_000127.2:p.Trp22Ter
NM_001243743.2:c.65G>A	NP_001230672.1:p.Trp22Ter
NM_001243744.2:c.65G>A	NP_001230673.1:p.Trp22Ter