Canonical Allele Identifier: CA374104298

Gene: AOPEP FANCC

Linked Data

• MyVariant Identifiers: chr9:g.97864020T>G (hg19) ; chr9:g.95101738T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101738T>G , CM000671.2:g.95101738T>G	GRCh38
NC_000009.11:g.97864020T>G , CM000671.1:g.97864020T>G	GRCh37
NC_000009.10:g.96903841T>G	NCBI36
NG_011707.1:g.220972A>C , LRG_497:g.220972A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+20958T>G (AOPEP)
ENST00000696260.1:n.2461A>C (FANCC)
ENST00000289081.8:c.1646A>C (FANCC) MANE Select	ENSP00000289081.3:p.Glu549Ala
ENST00000375305.6:c.1646A>C (FANCC)	ENSP00000364454.1:p.Glu549Ala
ENST00000649334.1:c.1791A>C (FANCC)	ENSP00000497735.1:n.1791A>C
ENST00000289081.7:c.1646A>C (FANCC)	ENSP00000289081.3:p.Glu549Ala
ENST00000375305.5:c.1646A>C (FANCC)	ENSP00000364454.1:p.Glu549Ala
NM_000136.2:c.1646A>C , LRG_497t1:c.1646A>C (FANCC)	NP_000127.2:p.Glu549Ala
NM_001243743.1:c.1646A>C (FANCC)	NP_001230672.1:p.Glu549Ala
XM_005251802.2:c.965A>C (FANCC)	XP_005251859.1:p.Glu322Ala
XM_006717001.1:c.1481A>C (FANCC)	XP_006717064.1:p.Glu494Ala
XM_011518365.1:c.1646A>C (FANCC)	XP_011516667.1:p.Glu549Ala
XM_011518367.1:c.1190A>C (FANCC)	XP_011516669.1:p.Glu397Ala
XM_011519121.1:c.2319+20958T>G (AOPEP)	XP_011517423.1:n.2319+20958T>G
XM_005251802.3:c.965A>C (FANCC)	XP_005251859.1:p.Glu322Ala
XM_006717001.3:c.1481A>C (FANCC)	XP_006717064.1:p.Glu494Ala
XM_011518365.3:c.1646A>C (FANCC)	XP_011516667.1:p.Glu549Ala
XM_011518367.2:c.1190A>C (FANCC)	XP_011516669.1:p.Glu397Ala
XM_011519121.3:c.2319+20958T>G (AOPEP)	XP_011517423.1:n.2319+20958T>G
XM_017014452.2:c.1190A>C (FANCC)	XP_016869941.1:p.Glu397Ala
XM_017014453.1:c.1190A>C (FANCC)	XP_016869942.1:p.Glu397Ala
XM_017014454.1:c.1025A>C (FANCC)	XP_016869943.1:p.Glu342Ala
XM_024447451.1:c.1646A>C (FANCC)	XP_024303219.1:p.Glu549Ala
NM_000136.3:c.1646A>C (FANCC) MANE Select	NP_000127.2:p.Glu549Ala
NM_001243743.2:c.1646A>C (FANCC)	NP_001230672.1:p.Glu549Ala