Canonical Allele Identifier: CA196540095

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs200423281
• gnomAD v3: 9-95107117-G-C
• gnomAD v4: 9-95107117-G-C
• MyVariant Identifiers: chr9:g.97869399G>C (hg19) ; chr9:g.95107117G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107117G>C , CM000671.2:g.95107117G>C	GRCh38
NC_000009.11:g.97869399G>C , CM000671.1:g.97869399G>C	GRCh37
NC_000009.10:g.96909220G>C	NCBI36
NG_011707.1:g.215593C>G , LRG_497:g.215593C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26337G>C (AOPEP)
ENST00000696260.1:n.2297C>G (FANCC)
ENST00000289081.8:c.1482C>G (FANCC) MANE Select	ENSP00000289081.3:p.Phe494Leu
ENST00000375305.6:c.1482C>G (FANCC)	ENSP00000364454.1:p.Phe494Leu
ENST00000649334.1:c.1627C>G (FANCC)	ENSP00000497735.1:n.1627C>G
ENST00000289081.7:c.1482C>G (FANCC)	ENSP00000289081.3:p.Phe494Leu
ENST00000375305.5:c.1482C>G (FANCC)	ENSP00000364454.1:p.Phe494Leu
ENST00000464627.5:n.809C>G (FANCC)
NM_000136.2:c.1482C>G , LRG_497t1:c.1482C>G (FANCC)	NP_000127.2:p.Phe494Leu
NM_001243743.1:c.1482C>G (FANCC)	NP_001230672.1:p.Phe494Leu
XM_005251802.2:c.801C>G (FANCC)	XP_005251859.1:p.Phe267Leu
XM_006717001.1:c.1317C>G (FANCC)	XP_006717064.1:p.Phe439Leu
XM_011518365.1:c.1482C>G (FANCC)	XP_011516667.1:p.Phe494Leu
XM_011518367.1:c.1026C>G (FANCC)	XP_011516669.1:p.Phe342Leu
XM_011519121.1:c.2319+26337G>C (AOPEP)	XP_011517423.1:n.2319+26337G>C
XM_005251802.3:c.801C>G (FANCC)	XP_005251859.1:p.Phe267Leu
XM_006717001.3:c.1317C>G (FANCC)	XP_006717064.1:p.Phe439Leu
XM_011518365.3:c.1482C>G (FANCC)	XP_011516667.1:p.Phe494Leu
XM_011518367.2:c.1026C>G (FANCC)	XP_011516669.1:p.Phe342Leu
XM_011519121.3:c.2319+26337G>C (AOPEP)	XP_011517423.1:n.2319+26337G>C
XM_017014452.2:c.1026C>G (FANCC)	XP_016869941.1:p.Phe342Leu
XM_017014453.1:c.1026C>G (FANCC)	XP_016869942.1:p.Phe342Leu
XM_017014454.1:c.861C>G (FANCC)	XP_016869943.1:p.Phe287Leu
XM_024447451.1:c.1482C>G (FANCC)	XP_024303219.1:p.Phe494Leu
XR_001746847.1:n.535G>C
NM_000136.3:c.1482C>G (FANCC) MANE Select	NP_000127.2:p.Phe494Leu
NM_001243743.2:c.1482C>G (FANCC)	NP_001230672.1:p.Phe494Leu