Canonical Allele Identifier: CA374104605

Gene: AOPEP FANCC

Linked Data

• MyVariant Identifiers: chr9:g.97864078A>T (hg19) ; chr9:g.95101796A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101796A>T , CM000671.2:g.95101796A>T	GRCh38
NC_000009.11:g.97864078A>T , CM000671.1:g.97864078A>T	GRCh37
NC_000009.10:g.96903899A>T	NCBI36
NG_011707.1:g.220914T>A , LRG_497:g.220914T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+21016A>T (AOPEP)
ENST00000696260.1:n.2403T>A (FANCC)
ENST00000289081.8:c.1588T>A (FANCC) MANE Select	ENSP00000289081.3:p.Leu530Met
ENST00000375305.6:c.1588T>A (FANCC)	ENSP00000364454.1:p.Leu530Met
ENST00000649334.1:c.1733T>A (FANCC)	ENSP00000497735.1:n.1733T>A
ENST00000289081.7:c.1588T>A (FANCC)	ENSP00000289081.3:p.Leu530Met
ENST00000375305.5:c.1588T>A (FANCC)	ENSP00000364454.1:p.Leu530Met
NM_000136.2:c.1588T>A , LRG_497t1:c.1588T>A (FANCC)	NP_000127.2:p.Leu530Met
NM_001243743.1:c.1588T>A (FANCC)	NP_001230672.1:p.Leu530Met
XM_005251802.2:c.907T>A (FANCC)	XP_005251859.1:p.Leu303Met
XM_006717001.1:c.1423T>A (FANCC)	XP_006717064.1:p.Leu475Met
XM_011518365.1:c.1588T>A (FANCC)	XP_011516667.1:p.Leu530Met
XM_011518367.1:c.1132T>A (FANCC)	XP_011516669.1:p.Leu378Met
XM_011519121.1:c.2319+21016A>T (AOPEP)	XP_011517423.1:n.2319+21016A>T
XM_005251802.3:c.907T>A (FANCC)	XP_005251859.1:p.Leu303Met
XM_006717001.3:c.1423T>A (FANCC)	XP_006717064.1:p.Leu475Met
XM_011518365.3:c.1588T>A (FANCC)	XP_011516667.1:p.Leu530Met
XM_011518367.2:c.1132T>A (FANCC)	XP_011516669.1:p.Leu378Met
XM_011519121.3:c.2319+21016A>T (AOPEP)	XP_011517423.1:n.2319+21016A>T
XM_017014452.2:c.1132T>A (FANCC)	XP_016869941.1:p.Leu378Met
XM_017014453.1:c.1132T>A (FANCC)	XP_016869942.1:p.Leu378Met
XM_017014454.1:c.967T>A (FANCC)	XP_016869943.1:p.Leu323Met
XM_024447451.1:c.1588T>A (FANCC)	XP_024303219.1:p.Leu530Met
NM_000136.3:c.1588T>A (FANCC) MANE Select	NP_000127.2:p.Leu530Met
NM_001243743.2:c.1588T>A (FANCC)	NP_001230672.1:p.Leu530Met