Canonical Allele Identifier: CA374107951

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1313682
• ClinVar RCV Id: RCV001764046 ; RCV002540507
• dbSNP Id: rs2134631019
• gnomAD v4: 9-95114652-T-G
• MyVariant Identifiers: chr9:g.97876934T>G (hg19) ; chr9:g.95114652T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95114652T>G , CM000671.2:g.95114652T>G	GRCh38
NC_000009.11:g.97876934T>G , CM000671.1:g.97876934T>G	GRCh37
NC_000009.10:g.96916755T>G	NCBI36
NG_011707.1:g.208058A>C , LRG_497:g.208058A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.411-32559T>G (AOPEP)
ENST00000289081.8:c.1131A>C (FANCC) MANE Select	ENSP00000289081.3:p.Glu377Asp
ENST00000375305.6:c.1131A>C (FANCC)	ENSP00000364454.1:p.Glu377Asp
ENST00000490972.7:c.1131A>C (FANCC)	ENSP00000479931.1:p.Glu377Asp
ENST00000649334.1:c.1276A>C (FANCC)	ENSP00000497735.1:n.1276A>C
ENST00000289081.7:c.1131A>C (FANCC)	ENSP00000289081.3:p.Glu377Asp
ENST00000375305.5:c.1131A>C (FANCC)	ENSP00000364454.1:p.Glu377Asp
ENST00000464627.5:n.458A>C (FANCC)
ENST00000464653.1:n.1127A>C (FANCC)
ENST00000477942.5:n.486A>C (FANCC)
ENST00000480712.5:n.316A>C (FANCC)
ENST00000490972.6:c.1131A>C (FANCC)	ENSP00000479931.1:p.Glu377Asp
NM_000136.2:c.1131A>C , LRG_497t1:c.1131A>C (FANCC)	NP_000127.2:p.Glu377Asp
NM_001243743.1:c.1131A>C (FANCC)	NP_001230672.1:p.Glu377Asp
NM_001243744.1:c.1131A>C (FANCC)	NP_001230673.1:p.Glu377Asp
XM_005251802.2:c.450A>C (FANCC)	XP_005251859.1:p.Glu150Asp
XM_006717001.1:c.966A>C (FANCC)	XP_006717064.1:p.Glu322Asp
XM_006717002.2:c.1131A>C (FANCC)	XP_006717065.1:p.Glu377Asp
XM_006717004.2:c.*26A>C (FANCC)	XP_006717067.1:n.*26A>C
XM_011518365.1:c.1131A>C (FANCC)	XP_011516667.1:p.Glu377Asp
XM_011518366.1:c.1131A>C (FANCC)	XP_011516668.1:p.Glu377Asp
XM_011518367.1:c.675A>C (FANCC)	XP_011516669.1:p.Glu225Asp
XM_011519121.1:c.2320-32559T>G (AOPEP)	XP_011517423.1:n.2320-32559T>G
XM_005251802.3:c.450A>C (FANCC)	XP_005251859.1:p.Glu150Asp
XM_006717001.3:c.966A>C (FANCC)	XP_006717064.1:p.Glu322Asp
XM_006717002.4:c.1131A>C (FANCC)	XP_006717065.1:p.Glu377Asp
XM_006717004.4:c.*26A>C (FANCC)	XP_006717067.1:n.*26A>C
XM_011518365.3:c.1131A>C (FANCC)	XP_011516667.1:p.Glu377Asp
XM_011518366.3:c.1131A>C (FANCC)	XP_011516668.1:p.Glu377Asp
XM_011518367.2:c.675A>C (FANCC)	XP_011516669.1:p.Glu225Asp
XM_011519121.3:c.2320-32559T>G (AOPEP)	XP_011517423.1:n.2320-32559T>G
XM_017014452.2:c.675A>C (FANCC)	XP_016869941.1:p.Glu225Asp
XM_017014453.1:c.675A>C (FANCC)	XP_016869942.1:p.Glu225Asp
XM_017014454.1:c.510A>C (FANCC)	XP_016869943.1:p.Glu170Asp
XM_024447451.1:c.1131A>C (FANCC)	XP_024303219.1:p.Glu377Asp
NM_000136.3:c.1131A>C (FANCC) MANE Select	NP_000127.2:p.Glu377Asp
NM_001243743.2:c.1131A>C (FANCC)	NP_001230672.1:p.Glu377Asp
NM_001243744.2:c.1131A>C (FANCC)	NP_001230673.1:p.Glu377Asp