Canonical Allele Identifier: CA466351433

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95111514-C-T
• MyVariant Identifiers: chr9:g.97873796C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111514C>T , CM000671.2:g.95111514C>T	GRCh38
NC_000009.11:g.97873796C>T , CM000671.1:g.97873796C>T	GRCh37
NC_000009.10:g.96913617C>T	NCBI36
NG_011707.1:g.211196G>A , LRG_497:g.211196G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+30734C>T (AOPEP)
ENST00000696260.1:n.2093G>A (FANCC)
ENST00000289081.8:c.1278G>A (FANCC) MANE Select	ENSP00000289081.3:p.Leu426=
ENST00000375305.6:c.1278G>A (FANCC)	ENSP00000364454.1:p.Leu426=
ENST00000490972.7:c.1278G>A (FANCC)	ENSP00000479931.1:p.Leu426=
ENST00000649334.1:c.1423G>A (FANCC)	ENSP00000497735.1:n.1423G>A
ENST00000289081.7:c.1278G>A (FANCC)	ENSP00000289081.3:p.Leu426=
ENST00000375305.5:c.1278G>A (FANCC)	ENSP00000364454.1:p.Leu426=
ENST00000464627.5:n.605G>A (FANCC)
ENST00000477942.5:n.633G>A (FANCC)
ENST00000480712.5:n.463G>A (FANCC)
ENST00000490972.6:c.1278G>A (FANCC)	ENSP00000479931.1:p.Leu426=
NM_000136.2:c.1278G>A , LRG_497t1:c.1278G>A (FANCC)	NP_000127.2:p.Leu426=
NM_001243743.1:c.1278G>A (FANCC)	NP_001230672.1:p.Leu426=
NM_001243744.1:c.1278G>A (FANCC)	NP_001230673.1:p.Leu426=
XM_005251802.2:c.597G>A (FANCC)	XP_005251859.1:p.Leu199=
XM_006717001.1:c.1113G>A (FANCC)	XP_006717064.1:p.Leu371=
XM_006717002.2:c.1278G>A (FANCC)	XP_006717065.1:p.Leu426=
XM_011518365.1:c.1278G>A (FANCC)	XP_011516667.1:p.Leu426=
XM_011518366.1:c.1278G>A (FANCC)	XP_011516668.1:p.Leu426=
XM_011518367.1:c.822G>A (FANCC)	XP_011516669.1:p.Leu274=
XM_011519121.1:c.2319+30734C>T (AOPEP)	XP_011517423.1:n.2319+30734C>T
XM_005251802.3:c.597G>A (FANCC)	XP_005251859.1:p.Leu199=
XM_006717001.3:c.1113G>A (FANCC)	XP_006717064.1:p.Leu371=
XM_006717002.4:c.1278G>A (FANCC)	XP_006717065.1:p.Leu426=
XM_011518365.3:c.1278G>A (FANCC)	XP_011516667.1:p.Leu426=
XM_011518366.3:c.1278G>A (FANCC)	XP_011516668.1:p.Leu426=
XM_011518367.2:c.822G>A (FANCC)	XP_011516669.1:p.Leu274=
XM_011519121.3:c.2319+30734C>T (AOPEP)	XP_011517423.1:n.2319+30734C>T
XM_017014452.2:c.822G>A (FANCC)	XP_016869941.1:p.Leu274=
XM_017014453.1:c.822G>A (FANCC)	XP_016869942.1:p.Leu274=
XM_017014454.1:c.657G>A (FANCC)	XP_016869943.1:p.Leu219=
XM_024447451.1:c.1278G>A (FANCC)	XP_024303219.1:p.Leu426=
NM_000136.3:c.1278G>A (FANCC) MANE Select	NP_000127.2:p.Leu426=
NM_001243743.2:c.1278G>A (FANCC)	NP_001230672.1:p.Leu426=
NM_001243744.2:c.1278G>A (FANCC)	NP_001230673.1:p.Leu426=