Canonical Allele Identifier: CA5137332

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1088675
• ClinVar RCV Id: RCV001407212 ; RCV002395920
• dbSNP Id: rs754079401
• ExAC: 9:97869435 A / G
• gnomAD v2: 9-97869435-A-G
• gnomAD v3: 9-95107153-A-G
• gnomAD v4: 9-95107153-A-G
• MyVariant Identifiers: chr9:g.97869435A>G (hg19) ; chr9:g.95107153A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107153A>G , CM000671.2:g.95107153A>G	GRCh38
NC_000009.11:g.97869435A>G , CM000671.1:g.97869435A>G	GRCh37
NC_000009.10:g.96909256A>G	NCBI36
NG_011707.1:g.215557T>C , LRG_497:g.215557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26373A>G (AOPEP)
ENST00000696260.1:n.2261T>C (FANCC)
ENST00000289081.8:c.1446T>C (FANCC) MANE Select	ENSP00000289081.3:p.Pro482=
ENST00000375305.6:c.1446T>C (FANCC)	ENSP00000364454.1:p.Pro482=
ENST00000649334.1:c.1591T>C (FANCC)	ENSP00000497735.1:n.1591T>C
ENST00000289081.7:c.1446T>C (FANCC)	ENSP00000289081.3:p.Pro482=
ENST00000375305.5:c.1446T>C (FANCC)	ENSP00000364454.1:p.Pro482=
ENST00000464627.5:n.773T>C (FANCC)
NM_000136.2:c.1446T>C , LRG_497t1:c.1446T>C (FANCC)	NP_000127.2:p.Pro482=
NM_001243743.1:c.1446T>C (FANCC)	NP_001230672.1:p.Pro482=
XM_005251802.2:c.765T>C (FANCC)	XP_005251859.1:p.Pro255=
XM_006717001.1:c.1281T>C (FANCC)	XP_006717064.1:p.Pro427=
XM_011518365.1:c.1446T>C (FANCC)	XP_011516667.1:p.Pro482=
XM_011518367.1:c.990T>C (FANCC)	XP_011516669.1:p.Pro330=
XM_011519121.1:c.2319+26373A>G (AOPEP)	XP_011517423.1:n.2319+26373A>G
XM_005251802.3:c.765T>C (FANCC)	XP_005251859.1:p.Pro255=
XM_006717001.3:c.1281T>C (FANCC)	XP_006717064.1:p.Pro427=
XM_011518365.3:c.1446T>C (FANCC)	XP_011516667.1:p.Pro482=
XM_011518367.2:c.990T>C (FANCC)	XP_011516669.1:p.Pro330=
XM_011519121.3:c.2319+26373A>G (AOPEP)	XP_011517423.1:n.2319+26373A>G
XM_017014452.2:c.990T>C (FANCC)	XP_016869941.1:p.Pro330=
XM_017014453.1:c.990T>C (FANCC)	XP_016869942.1:p.Pro330=
XM_017014454.1:c.825T>C (FANCC)	XP_016869943.1:p.Pro275=
XM_024447451.1:c.1446T>C (FANCC)	XP_024303219.1:p.Pro482=
XR_001746847.1:n.571A>G
NM_000136.3:c.1446T>C (FANCC) MANE Select	NP_000127.2:p.Pro482=
NM_001243743.2:c.1446T>C (FANCC)	NP_001230672.1:p.Pro482=