Canonical Allele Identifier: CA2690788126

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95106995-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95106995T>C , CM000671.2:g.95106995T>C	GRCh38
NC_000009.11:g.97869277T>C , CM000671.1:g.97869277T>C	GRCh37
NC_000009.10:g.96909098T>C	NCBI36
NG_011707.1:g.215715A>G , LRG_497:g.215715A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26215T>C (AOPEP)
ENST00000696260.1:n.2348+71A>G (FANCC)
ENST00000289081.8:c.1533+71A>G (FANCC) MANE Select	ENSP00000289081.3:n.1533+71A>G
ENST00000375305.6:c.1533+71A>G (FANCC)	ENSP00000364454.1:n.1533+71A>G
ENST00000649334.1:c.1678+71A>G (FANCC)	ENSP00000497735.1:n.1678+71A>G
ENST00000289081.7:c.1533+71A>G (FANCC)	ENSP00000289081.3:n.1533+71A>G
ENST00000375305.5:c.1533+71A>G (FANCC)	ENSP00000364454.1:n.1533+71A>G
NM_000136.2:c.1533+71A>G , LRG_497t1:c.1533+71A>G (FANCC)	NP_000127.2:n.1533+71A>G
NM_001243743.1:c.1533+71A>G (FANCC)	NP_001230672.1:n.1533+71A>G
XM_005251802.2:c.852+71A>G (FANCC)	XP_005251859.1:n.852+71A>G
XM_006717001.1:c.1368+71A>G (FANCC)	XP_006717064.1:n.1368+71A>G
XM_011518365.1:c.1533+71A>G (FANCC)	XP_011516667.1:n.1533+71A>G
XM_011518367.1:c.1077+71A>G (FANCC)	XP_011516669.1:n.1077+71A>G
XM_011519121.1:c.2319+26215T>C (AOPEP)	XP_011517423.1:n.2319+26215T>C
XM_005251802.3:c.852+71A>G (FANCC)	XP_005251859.1:n.852+71A>G
XM_006717001.3:c.1368+71A>G (FANCC)	XP_006717064.1:n.1368+71A>G
XM_011518365.3:c.1533+71A>G (FANCC)	XP_011516667.1:n.1533+71A>G
XM_011518367.2:c.1077+71A>G (FANCC)	XP_011516669.1:n.1077+71A>G
XM_011519121.3:c.2319+26215T>C (AOPEP)	XP_011517423.1:n.2319+26215T>C
XM_017014452.2:c.1077+71A>G (FANCC)	XP_016869941.1:n.1077+71A>G
XM_017014453.1:c.1077+71A>G (FANCC)	XP_016869942.1:n.1077+71A>G
XM_017014454.1:c.912+71A>G (FANCC)	XP_016869943.1:n.912+71A>G
XM_024447451.1:c.1533+71A>G (FANCC)	XP_024303219.1:n.1533+71A>G
XR_001746847.1:n.413T>C
NM_000136.3:c.1533+71A>G (FANCC) MANE Select	NP_000127.2:n.1533+71A>G
NM_001243743.2:c.1533+71A>G (FANCC)	NP_001230672.1:n.1533+71A>G