Canonical Allele Identifier: CA466103388

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95150066-C-G
• MyVariant Identifiers: chr9:g.97912348C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95150066C>G , CM000671.2:g.95150066C>G	GRCh38
NC_000009.11:g.97912348C>G , CM000671.1:g.97912348C>G	GRCh37
NC_000009.10:g.96952169C>G	NCBI36
NG_011707.1:g.172644G>C , LRG_497:g.172644G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.3266C>G (AOPEP)
ENST00000696261.1:n.934G>C (FANCC)
ENST00000289081.8:c.543G>C (FANCC) MANE Select	ENSP00000289081.3:p.Ala181=
ENST00000375305.6:c.543G>C (FANCC)	ENSP00000364454.1:p.Ala181=
ENST00000490972.7:c.543G>C (FANCC)	ENSP00000479931.1:p.Ala181=
ENST00000636777.1:n.601G>C (FANCC)
ENST00000649334.1:c.688G>C (FANCC)	ENSP00000497735.1:n.688G>C
ENST00000649701.1:n.258G>C (FANCC)
ENST00000289081.7:c.543G>C (FANCC)	ENSP00000289081.3:p.Ala181=
ENST00000375305.5:c.543G>C (FANCC)	ENSP00000364454.1:p.Ala181=
ENST00000490972.6:c.543G>C (FANCC)	ENSP00000479931.1:p.Ala181=
NM_000136.2:c.543G>C , LRG_497t1:c.543G>C (FANCC)	NP_000127.2:p.Ala181=
NM_001243743.1:c.543G>C (FANCC)	NP_001230672.1:p.Ala181=
NM_001243744.1:c.543G>C (FANCC)	NP_001230673.1:p.Ala181=
XM_006717001.1:c.522-14564G>C (FANCC)	XP_006717064.1:n.522-14564G>C
XM_006717002.2:c.543G>C (FANCC)	XP_006717065.1:p.Ala181=
XM_006717004.2:c.543G>C (FANCC)	XP_006717067.1:p.Ala181=
XM_011518365.1:c.543G>C (FANCC)	XP_011516667.1:p.Ala181=
XM_011518366.1:c.543G>C (FANCC)	XP_011516668.1:p.Ala181=
XM_011518367.1:c.87G>C (FANCC)	XP_011516669.1:p.Ala29=
XM_006717001.3:c.522-14564G>C (FANCC)	XP_006717064.1:n.522-14564G>C
XM_006717002.4:c.543G>C (FANCC)	XP_006717065.1:p.Ala181=
XM_006717004.4:c.543G>C (FANCC)	XP_006717067.1:p.Ala181=
XM_011518365.3:c.543G>C (FANCC)	XP_011516667.1:p.Ala181=
XM_011518366.3:c.543G>C (FANCC)	XP_011516668.1:p.Ala181=
XM_011518367.2:c.87G>C (FANCC)	XP_011516669.1:p.Ala29=
XM_017014452.2:c.87G>C (FANCC)	XP_016869941.1:p.Ala29=
XM_017014453.1:c.87G>C (FANCC)	XP_016869942.1:p.Ala29=
XM_017014454.1:c.66-14564G>C (FANCC)	XP_016869943.1:n.66-14564G>C
XM_024447451.1:c.543G>C (FANCC)	XP_024303219.1:p.Ala181=
NM_000136.3:c.543G>C (FANCC) MANE Select	NP_000127.2:p.Ala181=
NM_001243743.2:c.543G>C (FANCC)	NP_001230672.1:p.Ala181=
NM_001243744.2:c.543G>C (FANCC)	NP_001230673.1:p.Ala181=