Canonical Allele Identifier: CA349758

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 220261
• ClinVar RCV Id: RCV000205627 ; RCV000608632 ; RCV001019916 ; RCV001274464 ; RCV003477690
• dbSNP Id: rs748582850
• ExAC: 9:97887371 C / T
• gnomAD v2: 9-97887371-C-T
• gnomAD v3: 9-95125089-C-T
• gnomAD v4: 9-95125089-C-T
• MyVariant Identifiers: chr9:g.97887371C>T (hg19) ; chr9:g.95125089C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95125089C>T , CM000671.2:g.95125089C>T	GRCh38
NC_000009.11:g.97887371C>T , CM000671.1:g.97887371C>T	GRCh37
NC_000009.10:g.96927192C>T	NCBI36
NG_011707.1:g.197621G>A , LRG_497:g.197621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-22122C>T (AOPEP)
ENST00000289081.8:c.993G>A (FANCC) MANE Select	ENSP00000289081.3:p.Lys331=
ENST00000375305.6:c.993G>A (FANCC)	ENSP00000364454.1:p.Lys331=
ENST00000490972.7:c.993G>A (FANCC)	ENSP00000479931.1:p.Lys331=
ENST00000649334.1:c.1138G>A (FANCC)	ENSP00000497735.1:n.1138G>A
ENST00000289081.7:c.993G>A (FANCC)	ENSP00000289081.3:p.Lys331=
ENST00000375305.5:c.993G>A (FANCC)	ENSP00000364454.1:p.Lys331=
ENST00000464627.5:n.320G>A (FANCC)
ENST00000464653.1:n.989G>A (FANCC)
ENST00000477942.5:n.348G>A (FANCC)
ENST00000480712.5:n.178G>A (FANCC)
ENST00000490972.6:c.993G>A (FANCC)	ENSP00000479931.1:p.Lys331=
NM_000136.2:c.993G>A , LRG_497t1:c.993G>A (FANCC)	NP_000127.2:p.Lys331=
NM_001243743.1:c.993G>A (FANCC)	NP_001230672.1:p.Lys331=
NM_001243744.1:c.993G>A (FANCC)	NP_001230673.1:p.Lys331=
XM_005251802.2:c.312G>A (FANCC)	XP_005251859.1:p.Lys104=
XM_006717001.1:c.828G>A (FANCC)	XP_006717064.1:p.Lys276=
XM_006717002.2:c.993G>A (FANCC)	XP_006717065.1:p.Lys331=
XM_006717004.2:c.993G>A (FANCC)	XP_006717067.1:p.Lys331=
XM_011518365.1:c.993G>A (FANCC)	XP_011516667.1:p.Lys331=
XM_011518366.1:c.993G>A (FANCC)	XP_011516668.1:p.Lys331=
XM_011518367.1:c.537G>A (FANCC)	XP_011516669.1:p.Lys179=
XM_011519121.1:c.2320-22122C>T (AOPEP)	XP_011517423.1:n.2320-22122C>T
XM_005251802.3:c.312G>A (FANCC)	XP_005251859.1:p.Lys104=
XM_006717001.3:c.828G>A (FANCC)	XP_006717064.1:p.Lys276=
XM_006717002.4:c.993G>A (FANCC)	XP_006717065.1:p.Lys331=
XM_006717004.4:c.993G>A (FANCC)	XP_006717067.1:p.Lys331=
XM_011518365.3:c.993G>A (FANCC)	XP_011516667.1:p.Lys331=
XM_011518366.3:c.993G>A (FANCC)	XP_011516668.1:p.Lys331=
XM_011518367.2:c.537G>A (FANCC)	XP_011516669.1:p.Lys179=
XM_011519121.3:c.2320-22122C>T (AOPEP)	XP_011517423.1:n.2320-22122C>T
XM_017014452.2:c.537G>A (FANCC)	XP_016869941.1:p.Lys179=
XM_017014453.1:c.537G>A (FANCC)	XP_016869942.1:p.Lys179=
XM_017014454.1:c.372G>A (FANCC)	XP_016869943.1:p.Lys124=
XM_024447451.1:c.993G>A (FANCC)	XP_024303219.1:p.Lys331=
NM_000136.3:c.993G>A (FANCC) MANE Select	NP_000127.2:p.Lys331=
NM_001243743.2:c.993G>A (FANCC)	NP_001230672.1:p.Lys331=
NM_001243744.2:c.993G>A (FANCC)	NP_001230673.1:p.Lys331=