Canonical Allele Identifier: CA1288363426
Gene: CFC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592863T= , CM000664.2:g.130592863T= GRCh38
NC_000002.11:g.131350436T= , CM000664.1:g.131350436T= GRCh37
NC_000002.10:g.131066906T= NCBI36
NG_008148.1:g.11647A=

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.*14A= MANE Select ENSP00000259216.5:n.*14A=
ENST00000259216.4:c.*14A= ENSP00000259216.4:n.*14A=
ENST00000615342.4:c.571A= ENSP00000480526.1:p.Lys191=
ENST00000621673.4:c.*14A= ENSP00000480843.1:n.*14A=
NM_001270420.1:c.571A= NP_001257349.1:p.Lys191=
NM_001270421.1:c.*14A= NP_001257350.1:n.*14A=
NM_032545.3:c.*14A= NP_115934.1:n.*14A=
NM_032545.4:c.*14A= MANE Select NP_115934.1:n.*14A=
NM_001270420.2:c.571A= NP_001257349.1:p.Lys191=
NM_001270421.2:c.*14A= NP_001257350.1:n.*14A=