Canonical Allele Identifier: CA374106234

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 526362
• ClinVar RCV Id: RCV000630883 ; RCV003302984
• dbSNP Id: rs1554828451
• gnomAD v4: 9-95107238-A-G
• MyVariant Identifiers: chr9:g.97869520A>G (hg19) ; chr9:g.95107238A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107238A>G , CM000671.2:g.95107238A>G	GRCh38
NC_000009.11:g.97869520A>G , CM000671.1:g.97869520A>G	GRCh37
NC_000009.10:g.96909341A>G	NCBI36
NG_011707.1:g.215472T>C , LRG_497:g.215472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26458A>G (AOPEP)
ENST00000696260.1:n.2176T>C (FANCC)
ENST00000289081.8:c.1361T>C (FANCC) MANE Select	ENSP00000289081.3:p.Leu454Pro
ENST00000375305.6:c.1361T>C (FANCC)	ENSP00000364454.1:p.Leu454Pro
ENST00000649334.1:c.1506T>C (FANCC)	ENSP00000497735.1:n.1506T>C
ENST00000289081.7:c.1361T>C (FANCC)	ENSP00000289081.3:p.Leu454Pro
ENST00000375305.5:c.1361T>C (FANCC)	ENSP00000364454.1:p.Leu454Pro
ENST00000464627.5:n.688T>C (FANCC)
NM_000136.2:c.1361T>C , LRG_497t1:c.1361T>C (FANCC)	NP_000127.2:p.Leu454Pro
NM_001243743.1:c.1361T>C (FANCC)	NP_001230672.1:p.Leu454Pro
XM_005251802.2:c.680T>C (FANCC)	XP_005251859.1:p.Leu227Pro
XM_006717001.1:c.1196T>C (FANCC)	XP_006717064.1:p.Leu399Pro
XM_011518365.1:c.1361T>C (FANCC)	XP_011516667.1:p.Leu454Pro
XM_011518367.1:c.905T>C (FANCC)	XP_011516669.1:p.Leu302Pro
XM_011519121.1:c.2319+26458A>G (AOPEP)	XP_011517423.1:n.2319+26458A>G
XM_005251802.3:c.680T>C (FANCC)	XP_005251859.1:p.Leu227Pro
XM_006717001.3:c.1196T>C (FANCC)	XP_006717064.1:p.Leu399Pro
XM_011518365.3:c.1361T>C (FANCC)	XP_011516667.1:p.Leu454Pro
XM_011518367.2:c.905T>C (FANCC)	XP_011516669.1:p.Leu302Pro
XM_011519121.3:c.2319+26458A>G (AOPEP)	XP_011517423.1:n.2319+26458A>G
XM_017014452.2:c.905T>C (FANCC)	XP_016869941.1:p.Leu302Pro
XM_017014453.1:c.905T>C (FANCC)	XP_016869942.1:p.Leu302Pro
XM_017014454.1:c.740T>C (FANCC)	XP_016869943.1:p.Leu247Pro
XM_024447451.1:c.1361T>C (FANCC)	XP_024303219.1:p.Leu454Pro
XR_001746847.1:n.656A>G
NM_000136.3:c.1361T>C (FANCC) MANE Select	NP_000127.2:p.Leu454Pro
NM_001243743.2:c.1361T>C (FANCC)	NP_001230672.1:p.Leu454Pro