Canonical Allele Identifier: CA1288363464

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592943C= , CM000664.2:g.130592943C=	GRCh38
NC_000002.11:g.131350516C= , CM000664.1:g.131350516C=	GRCh37
NC_000002.10:g.131066986C=	NCBI36
NG_008148.1:g.11567G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.606G= MANE Select	ENSP00000259216.5:p.Leu202=
ENST00000259216.4:c.606G=	ENSP00000259216.4:p.Leu202=
ENST00000615342.4:c.491G=	ENSP00000480526.1:p.Trp164=
ENST00000621673.4:c.381G=	ENSP00000480843.1:p.Leu127=
NM_001270420.1:c.491G=	NP_001257349.1:p.Trp164=
NM_001270421.1:c.381G=	NP_001257350.1:p.Leu127=
NM_032545.3:c.606G=	NP_115934.1:p.Leu202=
NM_032545.4:c.606G= MANE Select	NP_115934.1:p.Leu202=
NM_001270420.2:c.491G=	NP_001257349.1:p.Trp164=
NM_001270421.2:c.381G=	NP_001257350.1:p.Leu127=