Canonical Allele Identifier: CA374109045

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 456169
• ClinVar RCV Id: RCV000530897
• dbSNP Id: rs1554833186
• MyVariant Identifiers: chr9:g.97888810C>G (hg19) ; chr9:g.95126528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95126528C>G , CM000671.2:g.95126528C>G	GRCh38
NC_000009.11:g.97888810C>G , CM000671.1:g.97888810C>G	GRCh37
NC_000009.10:g.96928631C>G	NCBI36
NG_011707.1:g.196182G>C , LRG_497:g.196182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-20683C>G (AOPEP)
ENST00000289081.8:c.896+1G>C (FANCC) MANE Select	ENSP00000289081.3:n.896+1G>C
ENST00000375305.6:c.896+1G>C (FANCC)	ENSP00000364454.1:n.896+1G>C
ENST00000490972.7:c.896+1G>C (FANCC)	ENSP00000479931.1:n.896+1G>C
ENST00000649334.1:c.1041+1G>C (FANCC)	ENSP00000497735.1:n.1041+1G>C
ENST00000289081.7:c.896+1G>C (FANCC)	ENSP00000289081.3:n.896+1G>C
ENST00000375305.5:c.896+1G>C (FANCC)	ENSP00000364454.1:n.896+1G>C
ENST00000464627.5:n.223+1G>C (FANCC)
ENST00000464653.1:n.892+1G>C (FANCC)
ENST00000477942.5:n.251+1G>C (FANCC)
ENST00000480712.5:n.81+1G>C (FANCC)
ENST00000490972.6:c.896+1G>C (FANCC)	ENSP00000479931.1:n.896+1G>C
NM_000136.2:c.896+1G>C , LRG_497t1:c.896+1G>C (FANCC)	NP_000127.2:n.896+1G>C
NM_001243743.1:c.896+1G>C (FANCC)	NP_001230672.1:n.896+1G>C
NM_001243744.1:c.896+1G>C (FANCC)	NP_001230673.1:n.896+1G>C
XM_005251802.2:c.215+1G>C (FANCC)	XP_005251859.1:n.215+1G>C
XM_006717001.1:c.731+1G>C (FANCC)	XP_006717064.1:n.731+1G>C
XM_006717002.2:c.896+1G>C (FANCC)	XP_006717065.1:n.896+1G>C
XM_006717004.2:c.896+1G>C (FANCC)	XP_006717067.1:n.896+1G>C
XM_011518365.1:c.896+1G>C (FANCC)	XP_011516667.1:n.896+1G>C
XM_011518366.1:c.896+1G>C (FANCC)	XP_011516668.1:n.896+1G>C
XM_011518367.1:c.440+1G>C (FANCC)	XP_011516669.1:n.440+1G>C
XM_011519121.1:c.2320-20683C>G (AOPEP)	XP_011517423.1:n.2320-20683C>G
XM_005251802.3:c.215+1G>C (FANCC)	XP_005251859.1:n.215+1G>C
XM_006717001.3:c.731+1G>C (FANCC)	XP_006717064.1:n.731+1G>C
XM_006717002.4:c.896+1G>C (FANCC)	XP_006717065.1:n.896+1G>C
XM_006717004.4:c.896+1G>C (FANCC)	XP_006717067.1:n.896+1G>C
XM_011518365.3:c.896+1G>C (FANCC)	XP_011516667.1:n.896+1G>C
XM_011518366.3:c.896+1G>C (FANCC)	XP_011516668.1:n.896+1G>C
XM_011518367.2:c.440+1G>C (FANCC)	XP_011516669.1:n.440+1G>C
XM_011519121.3:c.2320-20683C>G (AOPEP)	XP_011517423.1:n.2320-20683C>G
XM_017014452.2:c.440+1G>C (FANCC)	XP_016869941.1:n.440+1G>C
XM_017014453.1:c.440+1G>C (FANCC)	XP_016869942.1:n.440+1G>C
XM_017014454.1:c.275+1G>C (FANCC)	XP_016869943.1:n.275+1G>C
XM_024447451.1:c.896+1G>C (FANCC)	XP_024303219.1:n.896+1G>C
NM_000136.3:c.896+1G>C (FANCC) MANE Select	NP_000127.2:n.896+1G>C
NM_001243743.2:c.896+1G>C (FANCC)	NP_001230672.1:n.896+1G>C
NM_001243744.2:c.896+1G>C (FANCC)	NP_001230673.1:n.896+1G>C