Canonical Allele Identifier: CA374109397

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs1276725910
• COSMIC: COSM6332072
• MyVariant Identifiers: chr9:g.97897735G>A (hg19) ; chr9:g.95135453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135453G>A , CM000671.2:g.95135453G>A	GRCh38
NC_000009.11:g.97897735G>A , CM000671.1:g.97897735G>A	GRCh37
NC_000009.10:g.96937556G>A	NCBI36
NG_011707.1:g.187257C>T , LRG_497:g.187257C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-11758G>A (AOPEP)
ENST00000696261.1:n.1127C>T (FANCC)
ENST00000289081.8:c.736C>T (FANCC) MANE Select	ENSP00000289081.3:p.His246Tyr
ENST00000375305.6:c.736C>T (FANCC)	ENSP00000364454.1:p.His246Tyr
ENST00000490972.7:c.736C>T (FANCC)	ENSP00000479931.1:p.His246Tyr
ENST00000649334.1:c.881C>T (FANCC)	ENSP00000497735.1:n.881C>T
ENST00000649701.1:n.451C>T (FANCC)
ENST00000289081.7:c.736C>T (FANCC)	ENSP00000289081.3:p.His246Tyr
ENST00000375305.5:c.736C>T (FANCC)	ENSP00000364454.1:p.His246Tyr
ENST00000477942.5:n.91C>T (FANCC)
ENST00000490972.6:c.736C>T (FANCC)	ENSP00000479931.1:p.His246Tyr
NM_000136.2:c.736C>T , LRG_497t1:c.736C>T (FANCC)	NP_000127.2:p.His246Tyr
NM_001243743.1:c.736C>T (FANCC)	NP_001230672.1:p.His246Tyr
NM_001243744.1:c.736C>T (FANCC)	NP_001230673.1:p.His246Tyr
XM_005251802.2:c.55C>T (FANCC)	XP_005251859.1:p.His19Tyr
XM_006717001.1:c.571C>T (FANCC)	XP_006717064.1:p.His191Tyr
XM_006717002.2:c.736C>T (FANCC)	XP_006717065.1:p.His246Tyr
XM_006717004.2:c.736C>T (FANCC)	XP_006717067.1:p.His246Tyr
XM_011518365.1:c.736C>T (FANCC)	XP_011516667.1:p.His246Tyr
XM_011518366.1:c.736C>T (FANCC)	XP_011516668.1:p.His246Tyr
XM_011518367.1:c.280C>T (FANCC)	XP_011516669.1:p.His94Tyr
XM_011519121.1:c.2320-11758G>A (AOPEP)	XP_011517423.1:n.2320-11758G>A
XM_005251802.3:c.55C>T (FANCC)	XP_005251859.1:p.His19Tyr
XM_006717001.3:c.571C>T (FANCC)	XP_006717064.1:p.His191Tyr
XM_006717002.4:c.736C>T (FANCC)	XP_006717065.1:p.His246Tyr
XM_006717004.4:c.736C>T (FANCC)	XP_006717067.1:p.His246Tyr
XM_011518365.3:c.736C>T (FANCC)	XP_011516667.1:p.His246Tyr
XM_011518366.3:c.736C>T (FANCC)	XP_011516668.1:p.His246Tyr
XM_011518367.2:c.280C>T (FANCC)	XP_011516669.1:p.His94Tyr
XM_011519121.3:c.2320-11758G>A (AOPEP)	XP_011517423.1:n.2320-11758G>A
XM_017014452.2:c.280C>T (FANCC)	XP_016869941.1:p.His94Tyr
XM_017014453.1:c.280C>T (FANCC)	XP_016869942.1:p.His94Tyr
XM_017014454.1:c.115C>T (FANCC)	XP_016869943.1:p.His39Tyr
XM_024447451.1:c.736C>T (FANCC)	XP_024303219.1:p.His246Tyr
NM_000136.3:c.736C>T (FANCC) MANE Select	NP_000127.2:p.His246Tyr
NM_001243743.2:c.736C>T (FANCC)	NP_001230672.1:p.His246Tyr
NM_001243744.2:c.736C>T (FANCC)	NP_001230673.1:p.His246Tyr