Canonical Allele Identifier: CA2580080681

Gene: FANCC

Linked Data

• ClinVar Variation Id: 1954006
• ClinVar RCV Id: RCV002705300
• dbSNP Id: rs2135578049

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171072C>T , CM000671.2:g.95171072C>T	GRCh38
NC_000009.11:g.97933354C>T , CM000671.1:g.97933354C>T	GRCh37
NC_000009.10:g.96973175C>T	NCBI36
NG_011707.1:g.151638G>A , LRG_497:g.151638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.912+7G>A
ENST00000289081.8:c.521+7G>A MANE Select	ENSP00000289081.3:n.521+7G>A
ENST00000375305.6:c.521+7G>A	ENSP00000364454.1:n.521+7G>A
ENST00000490972.7:c.521+7G>A	ENSP00000479931.1:n.521+7G>A
ENST00000636777.1:n.579+7G>A
ENST00000649334.1:c.666+7G>A	ENSP00000497735.1:n.666+7G>A
ENST00000649701.1:n.236+7G>A
ENST00000289081.7:c.521+7G>A	ENSP00000289081.3:n.521+7G>A
ENST00000375305.5:c.521+7G>A	ENSP00000364454.1:n.521+7G>A
ENST00000490972.6:c.521+7G>A	ENSP00000479931.1:n.521+7G>A
NM_000136.2:c.521+7G>A , LRG_497t1:c.521+7G>A	NP_000127.2:n.521+7G>A
NM_001243743.1:c.521+7G>A	NP_001230672.1:n.521+7G>A
NM_001243744.1:c.521+7G>A	NP_001230673.1:n.521+7G>A
XM_006717001.1:c.521+7G>A	XP_006717064.1:n.521+7G>A
XM_006717002.2:c.521+7G>A	XP_006717065.1:n.521+7G>A
XM_006717004.2:c.521+7G>A	XP_006717067.1:n.521+7G>A
XM_011518365.1:c.521+7G>A	XP_011516667.1:n.521+7G>A
XM_011518366.1:c.521+7G>A	XP_011516668.1:n.521+7G>A
XM_011518367.1:c.65+7G>A	XP_011516669.1:n.65+7G>A
XM_006717001.3:c.521+7G>A	XP_006717064.1:n.521+7G>A
XM_006717002.4:c.521+7G>A	XP_006717065.1:n.521+7G>A
XM_006717004.4:c.521+7G>A	XP_006717067.1:n.521+7G>A
XM_011518365.3:c.521+7G>A	XP_011516667.1:n.521+7G>A
XM_011518366.3:c.521+7G>A	XP_011516668.1:n.521+7G>A
XM_011518367.2:c.65+7G>A	XP_011516669.1:n.65+7G>A
XM_017014452.2:c.65+7G>A	XP_016869941.1:n.65+7G>A
XM_017014453.1:c.65+7G>A	XP_016869942.1:n.65+7G>A
XM_017014454.1:c.65+7G>A	XP_016869943.1:n.65+7G>A
XM_024447451.1:c.521+7G>A	XP_024303219.1:n.521+7G>A
NM_000136.3:c.521+7G>A MANE Select	NP_000127.2:n.521+7G>A
NM_001243743.2:c.521+7G>A	NP_001230672.1:n.521+7G>A
NM_001243744.2:c.521+7G>A	NP_001230673.1:n.521+7G>A