Canonical Allele Identifier: CA374108746

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 456174
• ClinVar RCV Id: RCV000538115
• dbSNP Id: rs374915316
• gnomAD v2: 9-97887374-G-T
• gnomAD v3: 9-95125092-G-T
• gnomAD v4: 9-95125092-G-T
• MyVariant Identifiers: chr9:g.97887374G>T (hg19) ; chr9:g.95125092G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95125092G>T , CM000671.2:g.95125092G>T	GRCh38
NC_000009.11:g.97887374G>T , CM000671.1:g.97887374G>T	GRCh37
NC_000009.10:g.96927195G>T	NCBI36
NG_011707.1:g.197618C>A , LRG_497:g.197618C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.411-22119G>T (AOPEP)
ENST00000289081.8:c.990C>A (FANCC) MANE Select	ENSP00000289081.3:p.Ser330Arg
ENST00000375305.6:c.990C>A (FANCC)	ENSP00000364454.1:p.Ser330Arg
ENST00000490972.7:c.990C>A (FANCC)	ENSP00000479931.1:p.Ser330Arg
ENST00000649334.1:c.1135C>A (FANCC)	ENSP00000497735.1:n.1135C>A
ENST00000289081.7:c.990C>A (FANCC)	ENSP00000289081.3:p.Ser330Arg
ENST00000375305.5:c.990C>A (FANCC)	ENSP00000364454.1:p.Ser330Arg
ENST00000464627.5:n.317C>A (FANCC)
ENST00000464653.1:n.986C>A (FANCC)
ENST00000477942.5:n.345C>A (FANCC)
ENST00000480712.5:n.175C>A (FANCC)
ENST00000490972.6:c.990C>A (FANCC)	ENSP00000479931.1:p.Ser330Arg
NM_000136.2:c.990C>A , LRG_497t1:c.990C>A (FANCC)	NP_000127.2:p.Ser330Arg
NM_001243743.1:c.990C>A (FANCC)	NP_001230672.1:p.Ser330Arg
NM_001243744.1:c.990C>A (FANCC)	NP_001230673.1:p.Ser330Arg
XM_005251802.2:c.309C>A (FANCC)	XP_005251859.1:p.Ser103Arg
XM_006717001.1:c.825C>A (FANCC)	XP_006717064.1:p.Ser275Arg
XM_006717002.2:c.990C>A (FANCC)	XP_006717065.1:p.Ser330Arg
XM_006717004.2:c.990C>A (FANCC)	XP_006717067.1:p.Ser330Arg
XM_011518365.1:c.990C>A (FANCC)	XP_011516667.1:p.Ser330Arg
XM_011518366.1:c.990C>A (FANCC)	XP_011516668.1:p.Ser330Arg
XM_011518367.1:c.534C>A (FANCC)	XP_011516669.1:p.Ser178Arg
XM_011519121.1:c.2320-22119G>T (AOPEP)	XP_011517423.1:n.2320-22119G>T
XM_005251802.3:c.309C>A (FANCC)	XP_005251859.1:p.Ser103Arg
XM_006717001.3:c.825C>A (FANCC)	XP_006717064.1:p.Ser275Arg
XM_006717002.4:c.990C>A (FANCC)	XP_006717065.1:p.Ser330Arg
XM_006717004.4:c.990C>A (FANCC)	XP_006717067.1:p.Ser330Arg
XM_011518365.3:c.990C>A (FANCC)	XP_011516667.1:p.Ser330Arg
XM_011518366.3:c.990C>A (FANCC)	XP_011516668.1:p.Ser330Arg
XM_011518367.2:c.534C>A (FANCC)	XP_011516669.1:p.Ser178Arg
XM_011519121.3:c.2320-22119G>T (AOPEP)	XP_011517423.1:n.2320-22119G>T
XM_017014452.2:c.534C>A (FANCC)	XP_016869941.1:p.Ser178Arg
XM_017014453.1:c.534C>A (FANCC)	XP_016869942.1:p.Ser178Arg
XM_017014454.1:c.369C>A (FANCC)	XP_016869943.1:p.Ser123Arg
XM_024447451.1:c.990C>A (FANCC)	XP_024303219.1:p.Ser330Arg
NM_000136.3:c.990C>A (FANCC) MANE Select	NP_000127.2:p.Ser330Arg
NM_001243743.2:c.990C>A (FANCC)	NP_001230672.1:p.Ser330Arg
NM_001243744.2:c.990C>A (FANCC)	NP_001230673.1:p.Ser330Arg