Canonical Allele Identifier: CA1126972222

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs2071877683
• gnomAD v3: 9-95111093-C-T
• gnomAD v4: 9-95111093-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111093C>T , CM000671.2:g.95111093C>T	GRCh38
NC_000009.11:g.97873375C>T , CM000671.1:g.97873375C>T	GRCh37
NC_000009.10:g.96913196C>T	NCBI36
NG_011707.1:g.211617G>A , LRG_497:g.211617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30313C>T (AOPEP)
ENST00000696260.1:n.2144+370G>A (FANCC)
ENST00000289081.8:c.1329+370G>A (FANCC) MANE Select	ENSP00000289081.3:n.1329+370G>A
ENST00000375305.6:c.1329+370G>A (FANCC)	ENSP00000364454.1:n.1329+370G>A
ENST00000490972.7:c.*103G>A (FANCC)	ENSP00000479931.1:n.*103G>A
ENST00000649334.1:c.1474+370G>A (FANCC)	ENSP00000497735.1:n.1474+370G>A
ENST00000289081.7:c.1329+370G>A (FANCC)	ENSP00000289081.3:n.1329+370G>A
ENST00000375305.5:c.1329+370G>A (FANCC)	ENSP00000364454.1:n.1329+370G>A
ENST00000464627.5:n.656+370G>A (FANCC)
ENST00000477942.5:n.684+370G>A (FANCC)
ENST00000480712.5:n.514+370G>A (FANCC)
ENST00000490972.6:c.*103G>A (FANCC)	ENSP00000479931.1:n.*103G>A
NM_000136.2:c.1329+370G>A , LRG_497t1:c.1329+370G>A (FANCC)	NP_000127.2:n.1329+370G>A
NM_001243743.1:c.1329+370G>A (FANCC)	NP_001230672.1:n.1329+370G>A
NM_001243744.1:c.*103G>A (FANCC)	NP_001230673.1:n.*103G>A
XM_005251802.2:c.648+370G>A (FANCC)	XP_005251859.1:n.648+370G>A
XM_006717001.1:c.1164+370G>A (FANCC)	XP_006717064.1:n.1164+370G>A
XM_006717002.2:c.1329+370G>A (FANCC)	XP_006717065.1:n.1329+370G>A
XM_011518365.1:c.1329+370G>A (FANCC)	XP_011516667.1:n.1329+370G>A
XM_011518367.1:c.873+370G>A (FANCC)	XP_011516669.1:n.873+370G>A
XM_011519121.1:c.2319+30313C>T (AOPEP)	XP_011517423.1:n.2319+30313C>T
XM_005251802.3:c.648+370G>A (FANCC)	XP_005251859.1:n.648+370G>A
XM_006717001.3:c.1164+370G>A (FANCC)	XP_006717064.1:n.1164+370G>A
XM_006717002.4:c.1329+370G>A (FANCC)	XP_006717065.1:n.1329+370G>A
XM_011518365.3:c.1329+370G>A (FANCC)	XP_011516667.1:n.1329+370G>A
XM_011518366.3:c.*218G>A (FANCC)	XP_011516668.1:n.*218G>A
XM_011518367.2:c.873+370G>A (FANCC)	XP_011516669.1:n.873+370G>A
XM_011519121.3:c.2319+30313C>T (AOPEP)	XP_011517423.1:n.2319+30313C>T
XM_017014452.2:c.873+370G>A (FANCC)	XP_016869941.1:n.873+370G>A
XM_017014453.1:c.873+370G>A (FANCC)	XP_016869942.1:n.873+370G>A
XM_017014454.1:c.708+370G>A (FANCC)	XP_016869943.1:n.708+370G>A
XM_024447451.1:c.1329+370G>A (FANCC)	XP_024303219.1:n.1329+370G>A
NM_000136.3:c.1329+370G>A (FANCC) MANE Select	NP_000127.2:n.1329+370G>A
NM_001243743.2:c.1329+370G>A (FANCC)	NP_001230672.1:n.1329+370G>A
NM_001243744.2:c.*103G>A (FANCC)	NP_001230673.1:n.*103G>A