Canonical Allele Identifier: CA5137417

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 652771
• ClinVar RCV Id: RCV000808401 ; RCV001273989 ; RCV001010523 ; RCV002298781
• dbSNP Id: rs200719554
• ExAC: 9:97873833 G / A
• gnomAD v2: 9-97873833-G-A
• gnomAD v3: 9-95111551-G-A
• gnomAD v4: 9-95111551-G-A
• COSMIC: COSM1111389
• MyVariant Identifiers: chr9:g.97873833G>A (hg19) ; chr9:g.95111551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111551G>A , CM000671.2:g.95111551G>A	GRCh38
NC_000009.11:g.97873833G>A , CM000671.1:g.97873833G>A	GRCh37
NC_000009.10:g.96913654G>A	NCBI36
NG_011707.1:g.211159C>T , LRG_497:g.211159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30771G>A (AOPEP)
ENST00000696260.1:n.2056C>T (FANCC)
ENST00000289081.8:c.1241C>T (FANCC) MANE Select	ENSP00000289081.3:p.Ser414Leu
ENST00000375305.6:c.1241C>T (FANCC)	ENSP00000364454.1:p.Ser414Leu
ENST00000490972.7:c.1241C>T (FANCC)	ENSP00000479931.1:p.Ser414Leu
ENST00000649334.1:c.1386C>T (FANCC)	ENSP00000497735.1:n.1386C>T
ENST00000289081.7:c.1241C>T (FANCC)	ENSP00000289081.3:p.Ser414Leu
ENST00000375305.5:c.1241C>T (FANCC)	ENSP00000364454.1:p.Ser414Leu
ENST00000464627.5:n.568C>T (FANCC)
ENST00000477942.5:n.596C>T (FANCC)
ENST00000480712.5:n.426C>T (FANCC)
ENST00000490972.6:c.1241C>T (FANCC)	ENSP00000479931.1:p.Ser414Leu
NM_000136.2:c.1241C>T , LRG_497t1:c.1241C>T (FANCC)	NP_000127.2:p.Ser414Leu
NM_001243743.1:c.1241C>T (FANCC)	NP_001230672.1:p.Ser414Leu
NM_001243744.1:c.1241C>T (FANCC)	NP_001230673.1:p.Ser414Leu
XM_005251802.2:c.560C>T (FANCC)	XP_005251859.1:p.Ser187Leu
XM_006717001.1:c.1076C>T (FANCC)	XP_006717064.1:p.Ser359Leu
XM_006717002.2:c.1241C>T (FANCC)	XP_006717065.1:p.Ser414Leu
XM_006717004.2:c.*136C>T (FANCC)	XP_006717067.1:n.*136C>T
XM_011518365.1:c.1241C>T (FANCC)	XP_011516667.1:p.Ser414Leu
XM_011518366.1:c.1241C>T (FANCC)	XP_011516668.1:p.Ser414Leu
XM_011518367.1:c.785C>T (FANCC)	XP_011516669.1:p.Ser262Leu
XM_011519121.1:c.2319+30771G>A (AOPEP)	XP_011517423.1:n.2319+30771G>A
XM_005251802.3:c.560C>T (FANCC)	XP_005251859.1:p.Ser187Leu
XM_006717001.3:c.1076C>T (FANCC)	XP_006717064.1:p.Ser359Leu
XM_006717002.4:c.1241C>T (FANCC)	XP_006717065.1:p.Ser414Leu
XM_006717004.4:c.*136C>T (FANCC)	XP_006717067.1:n.*136C>T
XM_011518365.3:c.1241C>T (FANCC)	XP_011516667.1:p.Ser414Leu
XM_011518366.3:c.1241C>T (FANCC)	XP_011516668.1:p.Ser414Leu
XM_011518367.2:c.785C>T (FANCC)	XP_011516669.1:p.Ser262Leu
XM_011519121.3:c.2319+30771G>A (AOPEP)	XP_011517423.1:n.2319+30771G>A
XM_017014452.2:c.785C>T (FANCC)	XP_016869941.1:p.Ser262Leu
XM_017014453.1:c.785C>T (FANCC)	XP_016869942.1:p.Ser262Leu
XM_017014454.1:c.620C>T (FANCC)	XP_016869943.1:p.Ser207Leu
XM_024447451.1:c.1241C>T (FANCC)	XP_024303219.1:p.Ser414Leu
NM_000136.3:c.1241C>T (FANCC) MANE Select	NP_000127.2:p.Ser414Leu
NM_001243743.2:c.1241C>T (FANCC)	NP_001230672.1:p.Ser414Leu
NM_001243744.2:c.1241C>T (FANCC)	NP_001230673.1:p.Ser414Leu