Canonical Allele Identifier: CA1288363427

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592864A= , CM000664.2:g.130592864A=	GRCh38
NC_000002.11:g.131350437A= , CM000664.1:g.131350437A=	GRCh37
NC_000002.10:g.131066907A=	NCBI36
NG_008148.1:g.11646T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.*13T= MANE Select	ENSP00000259216.5:n.*13T=
ENST00000259216.4:c.*13T=	ENSP00000259216.4:n.*13T=
ENST00000615342.4:c.570T=	ENSP00000480526.1:p.Cys190=
ENST00000621673.4:c.*13T=	ENSP00000480843.1:n.*13T=
NM_001270420.1:c.570T=	NP_001257349.1:p.Cys190=
NM_001270421.1:c.*13T=	NP_001257350.1:n.*13T=
NM_032545.3:c.*13T=	NP_115934.1:n.*13T=
NM_032545.4:c.*13T= MANE Select	NP_115934.1:n.*13T=
NM_001270420.2:c.570T=	NP_001257349.1:p.Cys190=
NM_001270421.2:c.*13T=	NP_001257350.1:n.*13T=