Canonical Allele Identifier: CA1288363446

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592909A= , CM000664.2:g.130592909A=	GRCh38
NC_000002.11:g.131350482A= , CM000664.1:g.131350482A=	GRCh37
NC_000002.10:g.131066952A=	NCBI36
NG_008148.1:g.11601T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.640T= MANE Select	ENSP00000259216.5:p.Cys214=
ENST00000259216.4:c.640T=	ENSP00000259216.4:p.Cys214=
ENST00000615342.4:c.525T=	ENSP00000480526.1:p.Pro175=
ENST00000621673.4:c.415T=	ENSP00000480843.1:p.Cys139=
NM_001270420.1:c.525T=	NP_001257349.1:p.Pro175=
NM_001270421.1:c.415T=	NP_001257350.1:p.Cys139=
NM_032545.3:c.640T=	NP_115934.1:p.Cys214=
NM_032545.4:c.640T= MANE Select	NP_115934.1:p.Cys214=
NM_001270420.2:c.525T=	NP_001257349.1:p.Pro175=
NM_001270421.2:c.415T=	NP_001257350.1:p.Cys139=