Canonical Allele Identifier: CA5137289

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 819740
• ClinVar RCV Id: RCV001012560 ; RCV001490592 ; RCV003236853
• dbSNP Id: rs769743634
• ExAC: 9:97864006 G / A
• gnomAD v2: 9-97864006-G-A
• gnomAD v3: 9-95101724-G-A
• gnomAD v4: 9-95101724-G-A
• MyVariant Identifiers: chr9:g.97864006G>A (hg19) ; chr9:g.95101724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101724G>A , CM000671.2:g.95101724G>A	GRCh38
NC_000009.11:g.97864006G>A , CM000671.1:g.97864006G>A	GRCh37
NC_000009.10:g.96903827G>A	NCBI36
NG_011707.1:g.220986C>T , LRG_497:g.220986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+20944G>A (AOPEP)
ENST00000696260.1:n.2475C>T (FANCC)
ENST00000289081.8:c.1660C>T (FANCC) MANE Select	ENSP00000289081.3:p.Leu554=
ENST00000375305.6:c.1660C>T (FANCC)	ENSP00000364454.1:p.Leu554=
ENST00000649334.1:c.1805C>T (FANCC)	ENSP00000497735.1:n.1805C>T
ENST00000289081.7:c.1660C>T (FANCC)	ENSP00000289081.3:p.Leu554=
ENST00000375305.5:c.1660C>T (FANCC)	ENSP00000364454.1:p.Leu554=
NM_000136.2:c.1660C>T , LRG_497t1:c.1660C>T (FANCC)	NP_000127.2:p.Leu554=
NM_001243743.1:c.1660C>T (FANCC)	NP_001230672.1:p.Leu554=
XM_005251802.2:c.979C>T (FANCC)	XP_005251859.1:p.Leu327=
XM_006717001.1:c.1495C>T (FANCC)	XP_006717064.1:p.Leu499=
XM_011518365.1:c.1660C>T (FANCC)	XP_011516667.1:p.Leu554=
XM_011518367.1:c.1204C>T (FANCC)	XP_011516669.1:p.Leu402=
XM_011519121.1:c.2319+20944G>A (AOPEP)	XP_011517423.1:n.2319+20944G>A
XM_005251802.3:c.979C>T (FANCC)	XP_005251859.1:p.Leu327=
XM_006717001.3:c.1495C>T (FANCC)	XP_006717064.1:p.Leu499=
XM_011518365.3:c.1660C>T (FANCC)	XP_011516667.1:p.Leu554=
XM_011518367.2:c.1204C>T (FANCC)	XP_011516669.1:p.Leu402=
XM_011519121.3:c.2319+20944G>A (AOPEP)	XP_011517423.1:n.2319+20944G>A
XM_017014452.2:c.1204C>T (FANCC)	XP_016869941.1:p.Leu402=
XM_017014453.1:c.1204C>T (FANCC)	XP_016869942.1:p.Leu402=
XM_017014454.1:c.1039C>T (FANCC)	XP_016869943.1:p.Leu347=
XM_024447451.1:c.1660C>T (FANCC)	XP_024303219.1:p.Leu554=
NM_000136.3:c.1660C>T (FANCC) MANE Select	NP_000127.2:p.Leu554=
NM_001243743.2:c.1660C>T (FANCC)	NP_001230672.1:p.Leu554=