Canonical Allele Identifier: CA1288363470

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592952A= , CM000664.2:g.130592952A=	GRCh38
NC_000002.11:g.131350525A= , CM000664.1:g.131350525A=	GRCh37
NC_000002.10:g.131066995A=	NCBI36
NG_008148.1:g.11558T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.597T= MANE Select	ENSP00000259216.5:p.Pro199=
ENST00000259216.4:c.597T=	ENSP00000259216.4:p.Pro199=
ENST00000615342.4:c.482T=	ENSP00000480526.1:p.Leu161=
ENST00000621673.4:c.372T=	ENSP00000480843.1:p.Pro124=
NM_001270420.1:c.482T=	NP_001257349.1:p.Leu161=
NM_001270421.1:c.372T=	NP_001257350.1:p.Pro124=
NM_032545.3:c.597T=	NP_115934.1:p.Pro199=
NM_032545.4:c.597T= MANE Select	NP_115934.1:p.Pro199=
NM_001270420.2:c.482T=	NP_001257349.1:p.Leu161=
NM_001270421.2:c.372T=	NP_001257350.1:p.Pro124=