Canonical Allele Identifier: CA2752191864

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592861T>C , CM000664.2:g.130592861T>C	GRCh38
NC_000002.11:g.131350434T>C , CM000664.1:g.131350434T>C	GRCh37
NC_000002.10:g.131066904T>C	NCBI36
NG_008148.1:g.11649A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.*16A>G MANE Select	ENSP00000259216.5:n.*16A>G
ENST00000259216.4:c.*16A>G	ENSP00000259216.4:n.*16A>G
ENST00000615342.4:c.573A>G	ENSP00000480526.1:p.Lys191=
ENST00000621673.4:c.*16A>G	ENSP00000480843.1:n.*16A>G
NM_001270420.1:c.573A>G	NP_001257349.1:p.Lys191=
NM_001270421.1:c.*16A>G	NP_001257350.1:n.*16A>G
NM_032545.3:c.*16A>G	NP_115934.1:n.*16A>G
NM_032545.4:c.*16A>G MANE Select	NP_115934.1:n.*16A>G
NM_001270420.2:c.573A>G	NP_001257349.1:p.Lys191=
NM_001270421.2:c.*16A>G	NP_001257350.1:n.*16A>G