Canonical Allele Identifier: CA2509133434

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592849A>G , CM000664.2:g.130592849A>G	GRCh38
NC_000002.11:g.131350422A>G , CM000664.1:g.131350422A>G	GRCh37
NC_000002.10:g.131066892A>G	NCBI36
NG_008148.1:g.11661T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.*28T>C MANE Select	ENSP00000259216.5:n.*28T>C
ENST00000259216.4:c.*28T>C	ENSP00000259216.4:n.*28T>C
ENST00000615342.4:c.*9T>C	ENSP00000480526.1:n.*9T>C
ENST00000621673.4:c.*28T>C	ENSP00000480843.1:n.*28T>C
NM_001270420.1:c.*9T>C	NP_001257349.1:n.*9T>C
NM_001270421.1:c.*28T>C	NP_001257350.1:n.*28T>C
NM_032545.3:c.*28T>C	NP_115934.1:n.*28T>C
NM_032545.4:c.*28T>C MANE Select	NP_115934.1:n.*28T>C
NM_001270420.2:c.*9T>C	NP_001257349.1:n.*9T>C
NM_001270421.2:c.*28T>C	NP_001257350.1:n.*28T>C