Canonical Allele Identifier: CA348502209

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350466A>T (hg19) ; chr2:g.130592893A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592893A>T , CM000664.2:g.130592893A>T	GRCh38
NC_000002.11:g.131350466A>T , CM000664.1:g.131350466A>T	GRCh37
NC_000002.10:g.131066936A>T	NCBI36
NG_008148.1:g.11617T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.656T>A MANE Select	ENSP00000259216.5:p.Leu219His
ENST00000259216.4:c.656T>A	ENSP00000259216.4:p.Leu219His
ENST00000615342.4:c.541T>A	ENSP00000480526.1:p.Leu181Met
ENST00000621673.4:c.431T>A	ENSP00000480843.1:p.Leu144His
NM_001270420.1:c.541T>A	NP_001257349.1:p.Leu181Met
NM_001270421.1:c.431T>A	NP_001257350.1:p.Leu144His
NM_032545.3:c.656T>A	NP_115934.1:p.Leu219His
NM_032545.4:c.656T>A MANE Select	NP_115934.1:p.Leu219His
NM_001270420.2:c.541T>A	NP_001257349.1:p.Leu181Met
NM_001270421.2:c.431T>A	NP_001257350.1:p.Leu144His