Canonical Allele Identifier: CA1288363438

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592894G= , CM000664.2:g.130592894G=	GRCh38
NC_000002.11:g.131350467G= , CM000664.1:g.131350467G=	GRCh37
NC_000002.10:g.131066937G=	NCBI36
NG_008148.1:g.11616C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.655C= MANE Select	ENSP00000259216.5:p.Leu219=
ENST00000259216.4:c.655C=	ENSP00000259216.4:p.Leu219=
ENST00000615342.4:c.540C=	ENSP00000480526.1:p.Asp180=
ENST00000621673.4:c.430C=	ENSP00000480843.1:p.Leu144=
NM_001270420.1:c.540C=	NP_001257349.1:p.Asp180=
NM_001270421.1:c.430C=	NP_001257350.1:p.Leu144=
NM_032545.3:c.655C=	NP_115934.1:p.Leu219=
NM_032545.4:c.655C= MANE Select	NP_115934.1:p.Leu219=
NM_001270420.2:c.540C=	NP_001257349.1:p.Asp180=
NM_001270421.2:c.430C=	NP_001257350.1:p.Leu144=