Canonical Allele Identifier: CA374104461

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95101770-A-C
• MyVariant Identifiers: chr9:g.97864052A>C (hg19) ; chr9:g.95101770A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101770A>C , CM000671.2:g.95101770A>C	GRCh38
NC_000009.11:g.97864052A>C , CM000671.1:g.97864052A>C	GRCh37
NC_000009.10:g.96903873A>C	NCBI36
NG_011707.1:g.220940T>G , LRG_497:g.220940T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+20990A>C (AOPEP)
ENST00000696260.1:n.2429T>G (FANCC)
ENST00000289081.8:c.1614T>G (FANCC) MANE Select	ENSP00000289081.3:p.Ile538Met
ENST00000375305.6:c.1614T>G (FANCC)	ENSP00000364454.1:p.Ile538Met
ENST00000649334.1:c.1759T>G (FANCC)	ENSP00000497735.1:n.1759T>G
ENST00000289081.7:c.1614T>G (FANCC)	ENSP00000289081.3:p.Ile538Met
ENST00000375305.5:c.1614T>G (FANCC)	ENSP00000364454.1:p.Ile538Met
NM_000136.2:c.1614T>G , LRG_497t1:c.1614T>G (FANCC)	NP_000127.2:p.Ile538Met
NM_001243743.1:c.1614T>G (FANCC)	NP_001230672.1:p.Ile538Met
XM_005251802.2:c.933T>G (FANCC)	XP_005251859.1:p.Ile311Met
XM_006717001.1:c.1449T>G (FANCC)	XP_006717064.1:p.Ile483Met
XM_011518365.1:c.1614T>G (FANCC)	XP_011516667.1:p.Ile538Met
XM_011518367.1:c.1158T>G (FANCC)	XP_011516669.1:p.Ile386Met
XM_011519121.1:c.2319+20990A>C (AOPEP)	XP_011517423.1:n.2319+20990A>C
XM_005251802.3:c.933T>G (FANCC)	XP_005251859.1:p.Ile311Met
XM_006717001.3:c.1449T>G (FANCC)	XP_006717064.1:p.Ile483Met
XM_011518365.3:c.1614T>G (FANCC)	XP_011516667.1:p.Ile538Met
XM_011518367.2:c.1158T>G (FANCC)	XP_011516669.1:p.Ile386Met
XM_011519121.3:c.2319+20990A>C (AOPEP)	XP_011517423.1:n.2319+20990A>C
XM_017014452.2:c.1158T>G (FANCC)	XP_016869941.1:p.Ile386Met
XM_017014453.1:c.1158T>G (FANCC)	XP_016869942.1:p.Ile386Met
XM_017014454.1:c.993T>G (FANCC)	XP_016869943.1:p.Ile331Met
XM_024447451.1:c.1614T>G (FANCC)	XP_024303219.1:p.Ile538Met
NM_000136.3:c.1614T>G (FANCC) MANE Select	NP_000127.2:p.Ile538Met
NM_001243743.2:c.1614T>G (FANCC)	NP_001230672.1:p.Ile538Met