Canonical Allele Identifier: CA374106156

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 2565544
• ClinVar RCV Id: RCV003288510
• MyVariant Identifiers: chr9:g.97869491C>T (hg19) ; chr9:g.95107209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107209C>T , CM000671.2:g.95107209C>T	GRCh38
NC_000009.11:g.97869491C>T , CM000671.1:g.97869491C>T	GRCh37
NC_000009.10:g.96909312C>T	NCBI36
NG_011707.1:g.215501G>A , LRG_497:g.215501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26429C>T (AOPEP)
ENST00000696260.1:n.2205G>A (FANCC)
ENST00000289081.8:c.1390G>A (FANCC) MANE Select	ENSP00000289081.3:p.Ala464Thr
ENST00000375305.6:c.1390G>A (FANCC)	ENSP00000364454.1:p.Ala464Thr
ENST00000649334.1:c.1535G>A (FANCC)	ENSP00000497735.1:n.1535G>A
ENST00000289081.7:c.1390G>A (FANCC)	ENSP00000289081.3:p.Ala464Thr
ENST00000375305.5:c.1390G>A (FANCC)	ENSP00000364454.1:p.Ala464Thr
ENST00000464627.5:n.717G>A (FANCC)
NM_000136.2:c.1390G>A , LRG_497t1:c.1390G>A (FANCC)	NP_000127.2:p.Ala464Thr
NM_001243743.1:c.1390G>A (FANCC)	NP_001230672.1:p.Ala464Thr
XM_005251802.2:c.709G>A (FANCC)	XP_005251859.1:p.Ala237Thr
XM_006717001.1:c.1225G>A (FANCC)	XP_006717064.1:p.Ala409Thr
XM_011518365.1:c.1390G>A (FANCC)	XP_011516667.1:p.Ala464Thr
XM_011518367.1:c.934G>A (FANCC)	XP_011516669.1:p.Ala312Thr
XM_011519121.1:c.2319+26429C>T (AOPEP)	XP_011517423.1:n.2319+26429C>T
XM_005251802.3:c.709G>A (FANCC)	XP_005251859.1:p.Ala237Thr
XM_006717001.3:c.1225G>A (FANCC)	XP_006717064.1:p.Ala409Thr
XM_011518365.3:c.1390G>A (FANCC)	XP_011516667.1:p.Ala464Thr
XM_011518367.2:c.934G>A (FANCC)	XP_011516669.1:p.Ala312Thr
XM_011519121.3:c.2319+26429C>T (AOPEP)	XP_011517423.1:n.2319+26429C>T
XM_017014452.2:c.934G>A (FANCC)	XP_016869941.1:p.Ala312Thr
XM_017014453.1:c.934G>A (FANCC)	XP_016869942.1:p.Ala312Thr
XM_017014454.1:c.769G>A (FANCC)	XP_016869943.1:p.Ala257Thr
XM_024447451.1:c.1390G>A (FANCC)	XP_024303219.1:p.Ala464Thr
XR_001746847.1:n.627C>T
NM_000136.3:c.1390G>A (FANCC) MANE Select	NP_000127.2:p.Ala464Thr
NM_001243743.2:c.1390G>A (FANCC)	NP_001230672.1:p.Ala464Thr