Canonical Allele Identifier: CA16041348

Gene: FANCC

Linked Data

• ClinVar Variation Id: 370119
• ClinVar RCV Id: RCV000412431
• dbSNP Id: rs1057516247
• MyVariant Identifiers: chr9:g.98002930del (hg19) ; chr9:g.95240648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95240649del , CM000671.2:g.95240649del	GRCh38
NC_000009.11:g.98002931del , CM000671.1:g.98002931del	GRCh37
NC_000009.10:g.97042752del	NCBI36
NG_011707.1:g.82062del , LRG_497:g.82062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.591+1del
ENST00000696262.1:c.346del	ENSP00000512510.1:p.Val116Ter
ENST00000289081.8:c.345+1del
ENST00000375305.6:c.345+1del
ENST00000490972.7:c.345+1del
ENST00000636777.1:n.403+1del
ENST00000647778.1:c.345+1del
ENST00000647882.1:c.345+1del
ENST00000648415.1:n.1983+1del
ENST00000649334.1:c.345+1del
ENST00000649519.1:c.345+1del
ENST00000649701.1:n.60+1del
ENST00000649872.1:c.345+1del
ENST00000650176.1:n.525+1del
ENST00000289081.7:c.345+1del
ENST00000375305.5:c.345+1del
ENST00000433829.1:c.345+1del
ENST00000474949.1:n.607+1del
ENST00000490972.6:c.345+1del
NM_000136.2:c.345+1del , LRG_497t1:c.345+1del
NM_001243743.1:c.345+1del
NM_001243744.1:c.345+1del
XM_006717001.1:c.345+1del
XM_006717002.2:c.345+1del
XM_006717004.2:c.345+1del
XM_011518365.1:c.345+1del
XM_011518366.1:c.345+1del
XM_011518367.1:c.-257+1del
XM_006717001.3:c.345+1del
XM_006717002.4:c.345+1del
XM_006717004.4:c.345+1del
XM_011518365.3:c.345+1del
XM_011518366.3:c.345+1del
XM_011518367.2:c.-257+1del
XM_017014452.2:c.-257+1del
XM_017014453.1:c.-257+1del
XM_017014454.1:c.-257+1del
XM_024447451.1:c.345+1del
NM_000136.3:c.345+1del
NM_001243743.2:c.345+1del
NM_001243744.2:c.345+1del