Canonical Allele Identifier: CA374108184

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1769318
• ClinVar RCV Id: RCV002380756
• dbSNP Id: rs2134693364
• gnomAD v4: 9-95117362-G-A
• MyVariant Identifiers: chr9:g.97879644G>A (hg19) ; chr9:g.95117362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95117362G>A , CM000671.2:g.95117362G>A	GRCh38
NC_000009.11:g.97879644G>A , CM000671.1:g.97879644G>A	GRCh37
NC_000009.10:g.96919465G>A	NCBI36
NG_011707.1:g.205348C>T , LRG_497:g.205348C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.411-29849G>A (AOPEP)
ENST00000289081.8:c.1025C>T (FANCC) MANE Select	ENSP00000289081.3:p.Pro342Leu
ENST00000375305.6:c.1025C>T (FANCC)	ENSP00000364454.1:p.Pro342Leu
ENST00000490972.7:c.1025C>T (FANCC)	ENSP00000479931.1:p.Pro342Leu
ENST00000649334.1:c.1170C>T (FANCC)	ENSP00000497735.1:n.1170C>T
ENST00000289081.7:c.1025C>T (FANCC)	ENSP00000289081.3:p.Pro342Leu
ENST00000375305.5:c.1025C>T (FANCC)	ENSP00000364454.1:p.Pro342Leu
ENST00000464627.5:n.352C>T (FANCC)
ENST00000464653.1:n.1021C>T (FANCC)
ENST00000477942.5:n.380C>T (FANCC)
ENST00000480712.5:n.210C>T (FANCC)
ENST00000490972.6:c.1025C>T (FANCC)	ENSP00000479931.1:p.Pro342Leu
NM_000136.2:c.1025C>T , LRG_497t1:c.1025C>T (FANCC)	NP_000127.2:p.Pro342Leu
NM_001243743.1:c.1025C>T (FANCC)	NP_001230672.1:p.Pro342Leu
NM_001243744.1:c.1025C>T (FANCC)	NP_001230673.1:p.Pro342Leu
XM_005251802.2:c.344C>T (FANCC)	XP_005251859.1:p.Pro115Leu
XM_006717001.1:c.860C>T (FANCC)	XP_006717064.1:p.Pro287Leu
XM_006717002.2:c.1025C>T (FANCC)	XP_006717065.1:p.Pro342Leu
XM_006717004.2:c.997-2652C>T (FANCC)	XP_006717067.1:n.997-2652C>T
XM_011518365.1:c.1025C>T (FANCC)	XP_011516667.1:p.Pro342Leu
XM_011518366.1:c.1025C>T (FANCC)	XP_011516668.1:p.Pro342Leu
XM_011518367.1:c.569C>T (FANCC)	XP_011516669.1:p.Pro190Leu
XM_011519121.1:c.2320-29849G>A (AOPEP)	XP_011517423.1:n.2320-29849G>A
XM_005251802.3:c.344C>T (FANCC)	XP_005251859.1:p.Pro115Leu
XM_006717001.3:c.860C>T (FANCC)	XP_006717064.1:p.Pro287Leu
XM_006717002.4:c.1025C>T (FANCC)	XP_006717065.1:p.Pro342Leu
XM_006717004.4:c.997-2652C>T (FANCC)	XP_006717067.1:n.997-2652C>T
XM_011518365.3:c.1025C>T (FANCC)	XP_011516667.1:p.Pro342Leu
XM_011518366.3:c.1025C>T (FANCC)	XP_011516668.1:p.Pro342Leu
XM_011518367.2:c.569C>T (FANCC)	XP_011516669.1:p.Pro190Leu
XM_011519121.3:c.2320-29849G>A (AOPEP)	XP_011517423.1:n.2320-29849G>A
XM_017014452.2:c.569C>T (FANCC)	XP_016869941.1:p.Pro190Leu
XM_017014453.1:c.569C>T (FANCC)	XP_016869942.1:p.Pro190Leu
XM_017014454.1:c.404C>T (FANCC)	XP_016869943.1:p.Pro135Leu
XM_024447451.1:c.1025C>T (FANCC)	XP_024303219.1:p.Pro342Leu
NM_000136.3:c.1025C>T (FANCC) MANE Select	NP_000127.2:p.Pro342Leu
NM_001243743.2:c.1025C>T (FANCC)	NP_001230672.1:p.Pro342Leu
NM_001243744.2:c.1025C>T (FANCC)	NP_001230673.1:p.Pro342Leu