Canonical Allele Identifier: CA1288363422
Gene: CFC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592848A= , CM000664.2:g.130592848A= GRCh38
NC_000002.11:g.131350421A= , CM000664.1:g.131350421A= GRCh37
NC_000002.10:g.131066891A= NCBI36
NG_008148.1:g.11662T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000259216.6:c.*29T= MANE Select ENSP00000259216.5:n.*29T=
ENST00000259216.4:c.*29T= ENSP00000259216.4:n.*29T=
ENST00000615342.4:c.*10T= ENSP00000480526.1:n.*10T=
ENST00000621673.4:c.*29T= ENSP00000480843.1:n.*29T=
NM_001270420.1:c.*10T= NP_001257349.1:n.*10T=
NM_001270421.1:c.*29T= NP_001257350.1:n.*29T=
NM_032545.3:c.*29T= NP_115934.1:n.*29T=
NM_032545.4:c.*29T= MANE Select NP_115934.1:n.*29T=
NM_001270420.2:c.*10T= NP_001257349.1:n.*10T=
NM_001270421.2:c.*29T= NP_001257350.1:n.*29T=