Canonical Allele Identifier: CA374107988

Gene: AOPEP FANCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95114669A>G , CM000671.2:g.95114669A>G	GRCh38
NC_000009.11:g.97876951A>G , CM000671.1:g.97876951A>G	GRCh37
NC_000009.10:g.96916772A>G	NCBI36
NG_011707.1:g.208041T>C , LRG_497:g.208041T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000136.3:c.1114T>C (FANCC) MANE Select	NP_000127.2:p.Ser372Pro
ENST00000289081.8:c.1114T>C (FANCC) MANE Select	ENSP00000289081.3:p.Ser372Pro
NM_000136.2:c.1114T>C , LRG_497t1:c.1114T>C (FANCC)	NP_000127.2:p.Ser372Pro
NM_001243743.1:c.1114T>C (FANCC)	NP_001230672.1:p.Ser372Pro
NM_001243743.2:c.1114T>C (FANCC)	NP_001230672.1:p.Ser372Pro
NM_001243744.1:c.1114T>C (FANCC)	NP_001230673.1:p.Ser372Pro
NM_001243744.2:c.1114T>C (FANCC)	NP_001230673.1:p.Ser372Pro
ENST00000289081.7:c.1114T>C (FANCC)	ENSP00000289081.3:p.Ser372Pro
ENST00000375305.5:c.1114T>C (FANCC)	ENSP00000364454.1:p.Ser372Pro
ENST00000375305.6:c.1114T>C (FANCC)	ENSP00000364454.1:p.Ser372Pro
ENST00000464627.5:n.441T>C (FANCC)
ENST00000464653.1:n.1110T>C (FANCC)
ENST00000477942.5:n.469T>C (FANCC)
ENST00000480712.5:n.299T>C (FANCC)
ENST00000490972.6:c.1114T>C (FANCC)	ENSP00000479931.1:p.Ser372Pro
ENST00000490972.7:c.1114T>C (FANCC)	ENSP00000479931.1:p.Ser372Pro
ENST00000649334.1:c.1259T>C (FANCC)	ENSP00000497735.1:n.1259T>C
ENST00000710812.1:n.411-32542A>G (AOPEP)
XM_005251802.2:c.433T>C (FANCC)	XP_005251859.1:p.Ser145Pro
XM_005251802.3:c.433T>C (FANCC)	XP_005251859.1:p.Ser145Pro
XM_006717001.1:c.949T>C (FANCC)	XP_006717064.1:p.Ser317Pro
XM_006717001.3:c.949T>C (FANCC)	XP_006717064.1:p.Ser317Pro
XM_006717002.2:c.1114T>C (FANCC)	XP_006717065.1:p.Ser372Pro
XM_006717002.4:c.1114T>C (FANCC)	XP_006717065.1:p.Ser372Pro
XM_006717004.2:c.*9T>C (FANCC)	XP_006717067.1:n.*9T>C
XM_006717004.4:c.*9T>C (FANCC)	XP_006717067.1:n.*9T>C
XM_011518365.1:c.1114T>C (FANCC)	XP_011516667.1:p.Ser372Pro
XM_011518365.3:c.1114T>C (FANCC)	XP_011516667.1:p.Ser372Pro
XM_011518366.1:c.1114T>C (FANCC)	XP_011516668.1:p.Ser372Pro
XM_011518366.3:c.1114T>C (FANCC)	XP_011516668.1:p.Ser372Pro
XM_011518367.1:c.658T>C (FANCC)	XP_011516669.1:p.Ser220Pro
XM_011518367.2:c.658T>C (FANCC)	XP_011516669.1:p.Ser220Pro
XM_011519121.1:c.2320-32542A>G (AOPEP)	XP_011517423.1:n.2320-32542A>G
XM_011519121.3:c.2320-32542A>G (AOPEP)	XP_011517423.1:n.2320-32542A>G
XM_017014452.2:c.658T>C (FANCC)	XP_016869941.1:p.Ser220Pro
XM_017014453.1:c.658T>C (FANCC)	XP_016869942.1:p.Ser220Pro
XM_017014454.1:c.493T>C (FANCC)	XP_016869943.1:p.Ser165Pro
XM_024447451.1:c.1114T>C (FANCC)	XP_024303219.1:p.Ser372Pro