Canonical Allele Identifier: CA5137284

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 565379
• ClinVar RCV Id: RCV000684927
• dbSNP Id: rs758866109
• ExAC: 9:97863994 C / A
• gnomAD v2: 9-97863994-C-A
• gnomAD v4: 9-95101712-C-A
• MyVariant Identifiers: chr9:g.97863994C>A (hg19) ; chr9:g.95101712C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101712C>A , CM000671.2:g.95101712C>A	GRCh38
NC_000009.11:g.97863994C>A , CM000671.1:g.97863994C>A	GRCh37
NC_000009.10:g.96903815C>A	NCBI36
NG_011707.1:g.220998G>T , LRG_497:g.220998G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+20932C>A (AOPEP)
ENST00000696260.1:n.2487G>T (FANCC)
ENST00000289081.8:c.1672G>T (FANCC) MANE Select	ENSP00000289081.3:p.Val558Phe
ENST00000375305.6:c.1672G>T (FANCC)	ENSP00000364454.1:p.Val558Phe
ENST00000649334.1:c.1817G>T (FANCC)	ENSP00000497735.1:n.1817G>T
ENST00000289081.7:c.1672G>T (FANCC)	ENSP00000289081.3:p.Val558Phe
ENST00000375305.5:c.1672G>T (FANCC)	ENSP00000364454.1:p.Val558Phe
NM_000136.2:c.1672G>T , LRG_497t1:c.1672G>T (FANCC)	NP_000127.2:p.Val558Phe
NM_001243743.1:c.1672G>T (FANCC)	NP_001230672.1:p.Val558Phe
XM_005251802.2:c.991G>T (FANCC)	XP_005251859.1:p.Val331Phe
XM_006717001.1:c.1507G>T (FANCC)	XP_006717064.1:p.Val503Phe
XM_011518365.1:c.1672G>T (FANCC)	XP_011516667.1:p.Val558Phe
XM_011518367.1:c.1216G>T (FANCC)	XP_011516669.1:p.Val406Phe
XM_011519121.1:c.2319+20932C>A (AOPEP)	XP_011517423.1:n.2319+20932C>A
XM_005251802.3:c.991G>T (FANCC)	XP_005251859.1:p.Val331Phe
XM_006717001.3:c.1507G>T (FANCC)	XP_006717064.1:p.Val503Phe
XM_011518365.3:c.1672G>T (FANCC)	XP_011516667.1:p.Val558Phe
XM_011518367.2:c.1216G>T (FANCC)	XP_011516669.1:p.Val406Phe
XM_011519121.3:c.2319+20932C>A (AOPEP)	XP_011517423.1:n.2319+20932C>A
XM_017014452.2:c.1216G>T (FANCC)	XP_016869941.1:p.Val406Phe
XM_017014453.1:c.1216G>T (FANCC)	XP_016869942.1:p.Val406Phe
XM_017014454.1:c.1051G>T (FANCC)	XP_016869943.1:p.Val351Phe
XM_024447451.1:c.1672G>T (FANCC)	XP_024303219.1:p.Val558Phe
NM_000136.3:c.1672G>T (FANCC) MANE Select	NP_000127.2:p.Val558Phe
NM_001243743.2:c.1672G>T (FANCC)	NP_001230672.1:p.Val558Phe