Canonical Allele Identifier: CA1288363469
Gene: CFC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592951G= , CM000664.2:g.130592951G= GRCh38
NC_000002.11:g.131350524G= , CM000664.1:g.131350524G= GRCh37
NC_000002.10:g.131066994G= NCBI36
NG_008148.1:g.11559C=

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.598C= MANE Select ENSP00000259216.5:p.Arg200=
ENST00000259216.4:c.598C= ENSP00000259216.4:p.Arg200=
ENST00000615342.4:c.483C= ENSP00000480526.1:p.Leu161=
ENST00000621673.4:c.373C= ENSP00000480843.1:p.Arg125=
NM_001270420.1:c.483C= NP_001257349.1:p.Leu161=
NM_001270421.1:c.373C= NP_001257350.1:p.Arg125=
NM_032545.3:c.598C= NP_115934.1:p.Arg200=
NM_032545.4:c.598C= MANE Select NP_115934.1:p.Arg200=
NM_001270420.2:c.483C= NP_001257349.1:p.Leu161=
NM_001270421.2:c.373C= NP_001257350.1:p.Arg125=