Canonical Allele Identifier: CA348502156

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350448A>G (hg19) ; chr2:g.130592875A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592875A>G , CM000664.2:g.130592875A>G	GRCh38
NC_000002.11:g.131350448A>G , CM000664.1:g.131350448A>G	GRCh37
NC_000002.10:g.131066918A>G	NCBI36
NG_008148.1:g.11635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.*2T>C MANE Select	ENSP00000259216.5:n.*2T>C
ENST00000259216.4:c.*2T>C	ENSP00000259216.4:n.*2T>C
ENST00000615342.4:c.559T>C	ENSP00000480526.1:p.Phe187Leu
ENST00000621673.4:c.*2T>C	ENSP00000480843.1:n.*2T>C
NM_001270420.1:c.559T>C	NP_001257349.1:p.Phe187Leu
NM_001270421.1:c.*2T>C	NP_001257350.1:n.*2T>C
NM_032545.3:c.*2T>C	NP_115934.1:n.*2T>C
NM_032545.4:c.*2T>C MANE Select	NP_115934.1:n.*2T>C
NM_001270420.2:c.559T>C	NP_001257349.1:p.Phe187Leu
NM_001270421.2:c.*2T>C	NP_001257350.1:n.*2T>C