Canonical Allele Identifier: CA5137691

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 825878
• ClinVar RCV Id: RCV001024376 ; RCV001276455 ; RCV001862286
• dbSNP Id: rs377620735
• ExAC: 9:97912326 G / T
• gnomAD v2: 9-97912326-G-T
• gnomAD v3: 9-95150044-G-T
• gnomAD v4: 9-95150044-G-T
• MyVariant Identifiers: chr9:g.97912326G>T (hg19) ; chr9:g.95150044G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95150044G>T , CM000671.2:g.95150044G>T	GRCh38
NC_000009.11:g.97912326G>T , CM000671.1:g.97912326G>T	GRCh37
NC_000009.10:g.96952147G>T	NCBI36
NG_011707.1:g.172666C>A , LRG_497:g.172666C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.3244G>T (AOPEP)
ENST00000696261.1:n.956C>A (FANCC)
ENST00000289081.8:c.565C>A (FANCC) MANE Select	ENSP00000289081.3:p.Pro189Thr
ENST00000375305.6:c.565C>A (FANCC)	ENSP00000364454.1:p.Pro189Thr
ENST00000490972.7:c.565C>A (FANCC)	ENSP00000479931.1:p.Pro189Thr
ENST00000636777.1:n.623C>A (FANCC)
ENST00000649334.1:c.710C>A (FANCC)	ENSP00000497735.1:n.710C>A
ENST00000649701.1:n.280C>A (FANCC)
ENST00000289081.7:c.565C>A (FANCC)	ENSP00000289081.3:p.Pro189Thr
ENST00000375305.5:c.565C>A (FANCC)	ENSP00000364454.1:p.Pro189Thr
ENST00000490972.6:c.565C>A (FANCC)	ENSP00000479931.1:p.Pro189Thr
NM_000136.2:c.565C>A , LRG_497t1:c.565C>A (FANCC)	NP_000127.2:p.Pro189Thr
NM_001243743.1:c.565C>A (FANCC)	NP_001230672.1:p.Pro189Thr
NM_001243744.1:c.565C>A (FANCC)	NP_001230673.1:p.Pro189Thr
XM_006717001.1:c.522-14542C>A (FANCC)	XP_006717064.1:n.522-14542C>A
XM_006717002.2:c.565C>A (FANCC)	XP_006717065.1:p.Pro189Thr
XM_006717004.2:c.565C>A (FANCC)	XP_006717067.1:p.Pro189Thr
XM_011518365.1:c.565C>A (FANCC)	XP_011516667.1:p.Pro189Thr
XM_011518366.1:c.565C>A (FANCC)	XP_011516668.1:p.Pro189Thr
XM_011518367.1:c.109C>A (FANCC)	XP_011516669.1:p.Pro37Thr
XM_006717001.3:c.522-14542C>A (FANCC)	XP_006717064.1:n.522-14542C>A
XM_006717002.4:c.565C>A (FANCC)	XP_006717065.1:p.Pro189Thr
XM_006717004.4:c.565C>A (FANCC)	XP_006717067.1:p.Pro189Thr
XM_011518365.3:c.565C>A (FANCC)	XP_011516667.1:p.Pro189Thr
XM_011518366.3:c.565C>A (FANCC)	XP_011516668.1:p.Pro189Thr
XM_011518367.2:c.109C>A (FANCC)	XP_011516669.1:p.Pro37Thr
XM_017014452.2:c.109C>A (FANCC)	XP_016869941.1:p.Pro37Thr
XM_017014453.1:c.109C>A (FANCC)	XP_016869942.1:p.Pro37Thr
XM_017014454.1:c.66-14542C>A (FANCC)	XP_016869943.1:n.66-14542C>A
XM_024447451.1:c.565C>A (FANCC)	XP_024303219.1:p.Pro189Thr
NM_000136.3:c.565C>A (FANCC) MANE Select	NP_000127.2:p.Pro189Thr
NM_001243743.2:c.565C>A (FANCC)	NP_001230672.1:p.Pro189Thr
NM_001243744.2:c.565C>A (FANCC)	NP_001230673.1:p.Pro189Thr