Canonical Allele Identifier: CA374104614

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 819602
• ClinVar RCV Id: RCV001012292
• dbSNP Id: rs587778326
• MyVariant Identifiers: chr9:g.97864081T>A (hg19) ; chr9:g.95101799T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101799T>A , CM000671.2:g.95101799T>A	GRCh38
NC_000009.11:g.97864081T>A , CM000671.1:g.97864081T>A	GRCh37
NC_000009.10:g.96903902T>A	NCBI36
NG_011707.1:g.220911A>T , LRG_497:g.220911A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+21019T>A (AOPEP)
ENST00000696260.1:n.2400A>T (FANCC)
ENST00000289081.8:c.1585A>T (FANCC) MANE Select	ENSP00000289081.3:p.Thr529Ser
ENST00000375305.6:c.1585A>T (FANCC)	ENSP00000364454.1:p.Thr529Ser
ENST00000649334.1:c.1730A>T (FANCC)	ENSP00000497735.1:n.1730A>T
ENST00000289081.7:c.1585A>T (FANCC)	ENSP00000289081.3:p.Thr529Ser
ENST00000375305.5:c.1585A>T (FANCC)	ENSP00000364454.1:p.Thr529Ser
NM_000136.2:c.1585A>T , LRG_497t1:c.1585A>T (FANCC)	NP_000127.2:p.Thr529Ser
NM_001243743.1:c.1585A>T (FANCC)	NP_001230672.1:p.Thr529Ser
XM_005251802.2:c.904A>T (FANCC)	XP_005251859.1:p.Thr302Ser
XM_006717001.1:c.1420A>T (FANCC)	XP_006717064.1:p.Thr474Ser
XM_011518365.1:c.1585A>T (FANCC)	XP_011516667.1:p.Thr529Ser
XM_011518367.1:c.1129A>T (FANCC)	XP_011516669.1:p.Thr377Ser
XM_011519121.1:c.2319+21019T>A (AOPEP)	XP_011517423.1:n.2319+21019T>A
XM_005251802.3:c.904A>T (FANCC)	XP_005251859.1:p.Thr302Ser
XM_006717001.3:c.1420A>T (FANCC)	XP_006717064.1:p.Thr474Ser
XM_011518365.3:c.1585A>T (FANCC)	XP_011516667.1:p.Thr529Ser
XM_011518367.2:c.1129A>T (FANCC)	XP_011516669.1:p.Thr377Ser
XM_011519121.3:c.2319+21019T>A (AOPEP)	XP_011517423.1:n.2319+21019T>A
XM_017014452.2:c.1129A>T (FANCC)	XP_016869941.1:p.Thr377Ser
XM_017014453.1:c.1129A>T (FANCC)	XP_016869942.1:p.Thr377Ser
XM_017014454.1:c.964A>T (FANCC)	XP_016869943.1:p.Thr322Ser
XM_024447451.1:c.1585A>T (FANCC)	XP_024303219.1:p.Thr529Ser
NM_000136.3:c.1585A>T (FANCC) MANE Select	NP_000127.2:p.Thr529Ser
NM_001243743.2:c.1585A>T (FANCC)	NP_001230672.1:p.Thr529Ser