Canonical Allele Identifier: CA5137325

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 377848
• ClinVar RCV Id: RCV000631036 ; RCV001718826 ; RCV002392952
• dbSNP Id: rs56082100
• ExAC: 9:97869396 C / G
• gnomAD v2: 9-97869396-C-G
• gnomAD v3: 9-95107114-C-G
• gnomAD v4: 9-95107114-C-G
• MyVariant Identifiers: chr9:g.97869396C>G (hg19) ; chr9:g.95107114C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107114C>G , CM000671.2:g.95107114C>G	GRCh38
NC_000009.11:g.97869396C>G , CM000671.1:g.97869396C>G	GRCh37
NC_000009.10:g.96909217C>G	NCBI36
NG_011707.1:g.215596G>C , LRG_497:g.215596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26334C>G (AOPEP)
ENST00000696260.1:n.2300G>C (FANCC)
ENST00000289081.8:c.1485G>C (FANCC) MANE Select	ENSP00000289081.3:p.Leu495=
ENST00000375305.6:c.1485G>C (FANCC)	ENSP00000364454.1:p.Leu495=
ENST00000649334.1:c.1630G>C (FANCC)	ENSP00000497735.1:n.1630G>C
ENST00000289081.7:c.1485G>C (FANCC)	ENSP00000289081.3:p.Leu495=
ENST00000375305.5:c.1485G>C (FANCC)	ENSP00000364454.1:p.Leu495=
ENST00000464627.5:n.812G>C (FANCC)
NM_000136.2:c.1485G>C , LRG_497t1:c.1485G>C (FANCC)	NP_000127.2:p.Leu495=
NM_001243743.1:c.1485G>C (FANCC)	NP_001230672.1:p.Leu495=
XM_005251802.2:c.804G>C (FANCC)	XP_005251859.1:p.Leu268=
XM_006717001.1:c.1320G>C (FANCC)	XP_006717064.1:p.Leu440=
XM_011518365.1:c.1485G>C (FANCC)	XP_011516667.1:p.Leu495=
XM_011518367.1:c.1029G>C (FANCC)	XP_011516669.1:p.Leu343=
XM_011519121.1:c.2319+26334C>G (AOPEP)	XP_011517423.1:n.2319+26334C>G
XM_005251802.3:c.804G>C (FANCC)	XP_005251859.1:p.Leu268=
XM_006717001.3:c.1320G>C (FANCC)	XP_006717064.1:p.Leu440=
XM_011518365.3:c.1485G>C (FANCC)	XP_011516667.1:p.Leu495=
XM_011518367.2:c.1029G>C (FANCC)	XP_011516669.1:p.Leu343=
XM_011519121.3:c.2319+26334C>G (AOPEP)	XP_011517423.1:n.2319+26334C>G
XM_017014452.2:c.1029G>C (FANCC)	XP_016869941.1:p.Leu343=
XM_017014453.1:c.1029G>C (FANCC)	XP_016869942.1:p.Leu343=
XM_017014454.1:c.864G>C (FANCC)	XP_016869943.1:p.Leu288=
XM_024447451.1:c.1485G>C (FANCC)	XP_024303219.1:p.Leu495=
XR_001746847.1:n.532C>G
NM_000136.3:c.1485G>C (FANCC) MANE Select	NP_000127.2:p.Leu495=
NM_001243743.2:c.1485G>C (FANCC)	NP_001230672.1:p.Leu495=