Canonical Allele Identifier: CA374106297

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 456156
• ClinVar RCV Id: RCV003302777
• dbSNP Id: rs1554828492
• MyVariant Identifiers: chr9:g.97869551C>T (hg19) ; chr9:g.95107269C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107269C>T , CM000671.2:g.95107269C>T	GRCh38
NC_000009.11:g.97869551C>T , CM000671.1:g.97869551C>T	GRCh37
NC_000009.10:g.96909372C>T	NCBI36
NG_011707.1:g.215441G>A , LRG_497:g.215441G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+26489C>T (AOPEP)
ENST00000696260.1:n.2145G>A (FANCC)
ENST00000289081.8:c.1330G>A (FANCC) MANE Select	ENSP00000289081.3:p.Val444Ile
ENST00000375305.6:c.1330G>A (FANCC)	ENSP00000364454.1:p.Val444Ile
ENST00000649334.1:c.1475G>A (FANCC)	ENSP00000497735.1:n.1475G>A
ENST00000289081.7:c.1330G>A (FANCC)	ENSP00000289081.3:p.Val444Ile
ENST00000375305.5:c.1330G>A (FANCC)	ENSP00000364454.1:p.Val444Ile
ENST00000464627.5:n.657G>A (FANCC)
NM_000136.2:c.1330G>A , LRG_497t1:c.1330G>A (FANCC)	NP_000127.2:p.Val444Ile
NM_001243743.1:c.1330G>A (FANCC)	NP_001230672.1:p.Val444Ile
XM_005251802.2:c.649G>A (FANCC)	XP_005251859.1:p.Val217Ile
XM_006717001.1:c.1165G>A (FANCC)	XP_006717064.1:p.Val389Ile
XM_011518365.1:c.1330G>A (FANCC)	XP_011516667.1:p.Val444Ile
XM_011518367.1:c.874G>A (FANCC)	XP_011516669.1:p.Val292Ile
XM_011519121.1:c.2319+26489C>T (AOPEP)	XP_011517423.1:n.2319+26489C>T
XM_005251802.3:c.649G>A (FANCC)	XP_005251859.1:p.Val217Ile
XM_006717001.3:c.1165G>A (FANCC)	XP_006717064.1:p.Val389Ile
XM_011518365.3:c.1330G>A (FANCC)	XP_011516667.1:p.Val444Ile
XM_011518367.2:c.874G>A (FANCC)	XP_011516669.1:p.Val292Ile
XM_011519121.3:c.2319+26489C>T (AOPEP)	XP_011517423.1:n.2319+26489C>T
XM_017014452.2:c.874G>A (FANCC)	XP_016869941.1:p.Val292Ile
XM_017014453.1:c.874G>A (FANCC)	XP_016869942.1:p.Val292Ile
XM_017014454.1:c.709G>A (FANCC)	XP_016869943.1:p.Val237Ile
XM_024447451.1:c.1330G>A (FANCC)	XP_024303219.1:p.Val444Ile
XR_001746847.1:n.687C>T
NM_000136.3:c.1330G>A (FANCC) MANE Select	NP_000127.2:p.Val444Ile
NM_001243743.2:c.1330G>A (FANCC)	NP_001230672.1:p.Val444Ile