Canonical Allele Identifier: CA374109384

Gene: AOPEP FANCC

Linked Data

• MyVariant Identifiers: chr9:g.97897729G>C (hg19) ; chr9:g.95135447G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95135447G>C , CM000671.2:g.95135447G>C	GRCh38
NC_000009.11:g.97897729G>C , CM000671.1:g.97897729G>C	GRCh37
NC_000009.10:g.96937550G>C	NCBI36
NG_011707.1:g.187263C>G , LRG_497:g.187263C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-11764G>C (AOPEP)
ENST00000696261.1:n.1133C>G (FANCC)
ENST00000289081.8:c.742C>G (FANCC) MANE Select	ENSP00000289081.3:p.Pro248Ala
ENST00000375305.6:c.742C>G (FANCC)	ENSP00000364454.1:p.Pro248Ala
ENST00000490972.7:c.742C>G (FANCC)	ENSP00000479931.1:p.Pro248Ala
ENST00000649334.1:c.887C>G (FANCC)	ENSP00000497735.1:n.887C>G
ENST00000649701.1:n.457C>G (FANCC)
ENST00000289081.7:c.742C>G (FANCC)	ENSP00000289081.3:p.Pro248Ala
ENST00000375305.5:c.742C>G (FANCC)	ENSP00000364454.1:p.Pro248Ala
ENST00000477942.5:n.97C>G (FANCC)
ENST00000490972.6:c.742C>G (FANCC)	ENSP00000479931.1:p.Pro248Ala
NM_000136.2:c.742C>G , LRG_497t1:c.742C>G (FANCC)	NP_000127.2:p.Pro248Ala
NM_001243743.1:c.742C>G (FANCC)	NP_001230672.1:p.Pro248Ala
NM_001243744.1:c.742C>G (FANCC)	NP_001230673.1:p.Pro248Ala
XM_005251802.2:c.61C>G (FANCC)	XP_005251859.1:p.Pro21Ala
XM_006717001.1:c.577C>G (FANCC)	XP_006717064.1:p.Pro193Ala
XM_006717002.2:c.742C>G (FANCC)	XP_006717065.1:p.Pro248Ala
XM_006717004.2:c.742C>G (FANCC)	XP_006717067.1:p.Pro248Ala
XM_011518365.1:c.742C>G (FANCC)	XP_011516667.1:p.Pro248Ala
XM_011518366.1:c.742C>G (FANCC)	XP_011516668.1:p.Pro248Ala
XM_011518367.1:c.286C>G (FANCC)	XP_011516669.1:p.Pro96Ala
XM_011519121.1:c.2320-11764G>C (AOPEP)	XP_011517423.1:n.2320-11764G>C
XM_005251802.3:c.61C>G (FANCC)	XP_005251859.1:p.Pro21Ala
XM_006717001.3:c.577C>G (FANCC)	XP_006717064.1:p.Pro193Ala
XM_006717002.4:c.742C>G (FANCC)	XP_006717065.1:p.Pro248Ala
XM_006717004.4:c.742C>G (FANCC)	XP_006717067.1:p.Pro248Ala
XM_011518365.3:c.742C>G (FANCC)	XP_011516667.1:p.Pro248Ala
XM_011518366.3:c.742C>G (FANCC)	XP_011516668.1:p.Pro248Ala
XM_011518367.2:c.286C>G (FANCC)	XP_011516669.1:p.Pro96Ala
XM_011519121.3:c.2320-11764G>C (AOPEP)	XP_011517423.1:n.2320-11764G>C
XM_017014452.2:c.286C>G (FANCC)	XP_016869941.1:p.Pro96Ala
XM_017014453.1:c.286C>G (FANCC)	XP_016869942.1:p.Pro96Ala
XM_017014454.1:c.121C>G (FANCC)	XP_016869943.1:p.Pro41Ala
XM_024447451.1:c.742C>G (FANCC)	XP_024303219.1:p.Pro248Ala
NM_000136.3:c.742C>G (FANCC) MANE Select	NP_000127.2:p.Pro248Ala
NM_001243743.2:c.742C>G (FANCC)	NP_001230672.1:p.Pro248Ala
NM_001243744.2:c.742C>G (FANCC)	NP_001230673.1:p.Pro248Ala