Canonical Allele Identifier: CA466092112

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95101827-A-C
• MyVariant Identifiers: chr9:g.97864109A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101827A>C , CM000671.2:g.95101827A>C	GRCh38
NC_000009.11:g.97864109A>C , CM000671.1:g.97864109A>C	GRCh37
NC_000009.10:g.96903930A>C	NCBI36
NG_011707.1:g.220883T>G , LRG_497:g.220883T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+21047A>C (AOPEP)
ENST00000696260.1:n.2372T>G (FANCC)
ENST00000289081.8:c.1557T>G (FANCC) MANE Select	ENSP00000289081.3:p.Thr519=
ENST00000375305.6:c.1557T>G (FANCC)	ENSP00000364454.1:p.Thr519=
ENST00000649334.1:c.1702T>G (FANCC)	ENSP00000497735.1:n.1702T>G
ENST00000289081.7:c.1557T>G (FANCC)	ENSP00000289081.3:p.Thr519=
ENST00000375305.5:c.1557T>G (FANCC)	ENSP00000364454.1:p.Thr519=
NM_000136.2:c.1557T>G , LRG_497t1:c.1557T>G (FANCC)	NP_000127.2:p.Thr519=
NM_001243743.1:c.1557T>G (FANCC)	NP_001230672.1:p.Thr519=
XM_005251802.2:c.876T>G (FANCC)	XP_005251859.1:p.Thr292=
XM_006717001.1:c.1392T>G (FANCC)	XP_006717064.1:p.Thr464=
XM_011518365.1:c.1557T>G (FANCC)	XP_011516667.1:p.Thr519=
XM_011518367.1:c.1101T>G (FANCC)	XP_011516669.1:p.Thr367=
XM_011519121.1:c.2319+21047A>C (AOPEP)	XP_011517423.1:n.2319+21047A>C
XM_005251802.3:c.876T>G (FANCC)	XP_005251859.1:p.Thr292=
XM_006717001.3:c.1392T>G (FANCC)	XP_006717064.1:p.Thr464=
XM_011518365.3:c.1557T>G (FANCC)	XP_011516667.1:p.Thr519=
XM_011518367.2:c.1101T>G (FANCC)	XP_011516669.1:p.Thr367=
XM_011519121.3:c.2319+21047A>C (AOPEP)	XP_011517423.1:n.2319+21047A>C
XM_017014452.2:c.1101T>G (FANCC)	XP_016869941.1:p.Thr367=
XM_017014453.1:c.1101T>G (FANCC)	XP_016869942.1:p.Thr367=
XM_017014454.1:c.936T>G (FANCC)	XP_016869943.1:p.Thr312=
XM_024447451.1:c.1557T>G (FANCC)	XP_024303219.1:p.Thr519=
NM_000136.3:c.1557T>G (FANCC) MANE Select	NP_000127.2:p.Thr519=
NM_001243743.2:c.1557T>G (FANCC)	NP_001230672.1:p.Thr519=