Canonical Allele Identifier: CA348502665

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350578G>T (hg19) ; chr2:g.130593005G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130593005G>T , CM000664.2:g.130593005G>T	GRCh38
NC_000002.11:g.131350578G>T , CM000664.1:g.131350578G>T	GRCh37
NC_000002.10:g.131067048G>T	NCBI36
NG_008148.1:g.11505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.544C>A MANE Select	ENSP00000259216.5:p.Leu182Met
ENST00000259216.4:c.544C>A	ENSP00000259216.4:p.Leu182Met
ENST00000615342.4:c.429C>A	ENSP00000480526.1:p.Cys143Ter
ENST00000621673.4:c.319C>A	ENSP00000480843.1:p.Leu107Met
NM_001270420.1:c.429C>A	NP_001257349.1:p.Cys143Ter
NM_001270421.1:c.319C>A	NP_001257350.1:p.Leu107Met
NM_032545.3:c.544C>A	NP_115934.1:p.Leu182Met
NM_032545.4:c.544C>A MANE Select	NP_115934.1:p.Leu182Met
NM_001270420.2:c.429C>A	NP_001257349.1:p.Cys143Ter
NM_001270421.2:c.319C>A	NP_001257350.1:p.Leu107Met