Canonical Allele Identifier: CA374107902

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 3009822
• ClinVar RCV Id: RCV003864933
• dbSNP Id: rs1450888728
• gnomAD v2: 9-97876911-C-T
• gnomAD v4: 9-95114629-C-T
• COSMIC: COSM4428467
• MyVariant Identifiers: chr9:g.97876911C>T (hg19) ; chr9:g.95114629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95114629C>T , CM000671.2:g.95114629C>T	GRCh38
NC_000009.11:g.97876911C>T , CM000671.1:g.97876911C>T	GRCh37
NC_000009.10:g.96916732C>T	NCBI36
NG_011707.1:g.208081G>A , LRG_497:g.208081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.411-32582C>T (AOPEP)
ENST00000289081.8:c.1154G>A (FANCC) MANE Select	ENSP00000289081.3:p.Gly385Glu
ENST00000375305.6:c.1154G>A (FANCC)	ENSP00000364454.1:p.Gly385Glu
ENST00000490972.7:c.1154G>A (FANCC)	ENSP00000479931.1:p.Gly385Glu
ENST00000649334.1:c.1299G>A (FANCC)	ENSP00000497735.1:n.1299G>A
ENST00000289081.7:c.1154G>A (FANCC)	ENSP00000289081.3:p.Gly385Glu
ENST00000375305.5:c.1154G>A (FANCC)	ENSP00000364454.1:p.Gly385Glu
ENST00000464627.5:n.481G>A (FANCC)
ENST00000464653.1:n.1150G>A (FANCC)
ENST00000477942.5:n.509G>A (FANCC)
ENST00000480712.5:n.339G>A (FANCC)
ENST00000490972.6:c.1154G>A (FANCC)	ENSP00000479931.1:p.Gly385Glu
NM_000136.2:c.1154G>A , LRG_497t1:c.1154G>A (FANCC)	NP_000127.2:p.Gly385Glu
NM_001243743.1:c.1154G>A (FANCC)	NP_001230672.1:p.Gly385Glu
NM_001243744.1:c.1154G>A (FANCC)	NP_001230673.1:p.Gly385Glu
XM_005251802.2:c.473G>A (FANCC)	XP_005251859.1:p.Gly158Glu
XM_006717001.1:c.989G>A (FANCC)	XP_006717064.1:p.Gly330Glu
XM_006717002.2:c.1154G>A (FANCC)	XP_006717065.1:p.Gly385Glu
XM_006717004.2:c.*49G>A (FANCC)	XP_006717067.1:n.*49G>A
XM_011518365.1:c.1154G>A (FANCC)	XP_011516667.1:p.Gly385Glu
XM_011518366.1:c.1154G>A (FANCC)	XP_011516668.1:p.Gly385Glu
XM_011518367.1:c.698G>A (FANCC)	XP_011516669.1:p.Gly233Glu
XM_011519121.1:c.2320-32582C>T (AOPEP)	XP_011517423.1:n.2320-32582C>T
XM_005251802.3:c.473G>A (FANCC)	XP_005251859.1:p.Gly158Glu
XM_006717001.3:c.989G>A (FANCC)	XP_006717064.1:p.Gly330Glu
XM_006717002.4:c.1154G>A (FANCC)	XP_006717065.1:p.Gly385Glu
XM_006717004.4:c.*49G>A (FANCC)	XP_006717067.1:n.*49G>A
XM_011518365.3:c.1154G>A (FANCC)	XP_011516667.1:p.Gly385Glu
XM_011518366.3:c.1154G>A (FANCC)	XP_011516668.1:p.Gly385Glu
XM_011518367.2:c.698G>A (FANCC)	XP_011516669.1:p.Gly233Glu
XM_011519121.3:c.2320-32582C>T (AOPEP)	XP_011517423.1:n.2320-32582C>T
XM_017014452.2:c.698G>A (FANCC)	XP_016869941.1:p.Gly233Glu
XM_017014453.1:c.698G>A (FANCC)	XP_016869942.1:p.Gly233Glu
XM_017014454.1:c.533G>A (FANCC)	XP_016869943.1:p.Gly178Glu
XM_024447451.1:c.1154G>A (FANCC)	XP_024303219.1:p.Gly385Glu
NM_000136.3:c.1154G>A (FANCC) MANE Select	NP_000127.2:p.Gly385Glu
NM_001243743.2:c.1154G>A (FANCC)	NP_001230672.1:p.Gly385Glu
NM_001243744.2:c.1154G>A (FANCC)	NP_001230673.1:p.Gly385Glu