Canonical Allele Identifier: CA374109516

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 1464205
• ClinVar RCV Id: RCV001963404
• dbSNP Id: rs2135426128
• gnomAD v4: 9-95149926-A-G
• MyVariant Identifiers: chr9:g.97912208A>G (hg19) ; chr9:g.95149926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95149926A>G , CM000671.2:g.95149926A>G	GRCh38
NC_000009.11:g.97912208A>G , CM000671.1:g.97912208A>G	GRCh37
NC_000009.10:g.96952029A>G	NCBI36
NG_011707.1:g.172784T>C , LRG_497:g.172784T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.3126A>G (AOPEP)
ENST00000696261.1:n.1074T>C (FANCC)
ENST00000289081.8:c.683T>C (FANCC) MANE Select	ENSP00000289081.3:p.Leu228Ser
ENST00000375305.6:c.683T>C (FANCC)	ENSP00000364454.1:p.Leu228Ser
ENST00000490972.7:c.683T>C (FANCC)	ENSP00000479931.1:p.Leu228Ser
ENST00000649334.1:c.828T>C (FANCC)	ENSP00000497735.1:n.828T>C
ENST00000649701.1:n.398T>C (FANCC)
ENST00000289081.7:c.683T>C (FANCC)	ENSP00000289081.3:p.Leu228Ser
ENST00000375305.5:c.683T>C (FANCC)	ENSP00000364454.1:p.Leu228Ser
ENST00000490972.6:c.683T>C (FANCC)	ENSP00000479931.1:p.Leu228Ser
ENST00000493098.1:n.108T>C (FANCC)
NM_000136.2:c.683T>C , LRG_497t1:c.683T>C (FANCC)	NP_000127.2:p.Leu228Ser
NM_001243743.1:c.683T>C (FANCC)	NP_001230672.1:p.Leu228Ser
NM_001243744.1:c.683T>C (FANCC)	NP_001230673.1:p.Leu228Ser
XM_006717001.1:c.522-14424T>C (FANCC)	XP_006717064.1:n.522-14424T>C
XM_006717002.2:c.683T>C (FANCC)	XP_006717065.1:p.Leu228Ser
XM_006717004.2:c.683T>C (FANCC)	XP_006717067.1:p.Leu228Ser
XM_011518365.1:c.683T>C (FANCC)	XP_011516667.1:p.Leu228Ser
XM_011518366.1:c.683T>C (FANCC)	XP_011516668.1:p.Leu228Ser
XM_011518367.1:c.227T>C (FANCC)	XP_011516669.1:p.Leu76Ser
XM_006717001.3:c.522-14424T>C (FANCC)	XP_006717064.1:n.522-14424T>C
XM_006717002.4:c.683T>C (FANCC)	XP_006717065.1:p.Leu228Ser
XM_006717004.4:c.683T>C (FANCC)	XP_006717067.1:p.Leu228Ser
XM_011518365.3:c.683T>C (FANCC)	XP_011516667.1:p.Leu228Ser
XM_011518366.3:c.683T>C (FANCC)	XP_011516668.1:p.Leu228Ser
XM_011518367.2:c.227T>C (FANCC)	XP_011516669.1:p.Leu76Ser
XM_017014452.2:c.227T>C (FANCC)	XP_016869941.1:p.Leu76Ser
XM_017014453.1:c.227T>C (FANCC)	XP_016869942.1:p.Leu76Ser
XM_017014454.1:c.66-14424T>C (FANCC)	XP_016869943.1:n.66-14424T>C
XM_024447451.1:c.683T>C (FANCC)	XP_024303219.1:p.Leu228Ser
NM_000136.3:c.683T>C (FANCC) MANE Select	NP_000127.2:p.Leu228Ser
NM_001243743.2:c.683T>C (FANCC)	NP_001230672.1:p.Leu228Ser
NM_001243744.2:c.683T>C (FANCC)	NP_001230673.1:p.Leu228Ser