Canonical Allele Identifier: CA1288363442

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592901C= , CM000664.2:g.130592901C=	GRCh38
NC_000002.11:g.131350474C= , CM000664.1:g.131350474C=	GRCh37
NC_000002.10:g.131066944C=	NCBI36
NG_008148.1:g.11609G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.648G= MANE Select	ENSP00000259216.5:p.Arg216=
ENST00000259216.4:c.648G=	ENSP00000259216.4:p.Arg216=
ENST00000615342.4:c.533G=	ENSP00000480526.1:p.Gly178=
ENST00000621673.4:c.423G=	ENSP00000480843.1:p.Arg141=
NM_001270420.1:c.533G=	NP_001257349.1:p.Gly178=
NM_001270421.1:c.423G=	NP_001257350.1:p.Arg141=
NM_032545.3:c.648G=	NP_115934.1:p.Arg216=
NM_032545.4:c.648G= MANE Select	NP_115934.1:p.Arg216=
NM_001270420.2:c.533G=	NP_001257349.1:p.Gly178=
NM_001270421.2:c.423G=	NP_001257350.1:p.Arg141=