Canonical Allele Identifier: CA348502124

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350435T>A (hg19) ; chr2:g.130592862T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592862T>A , CM000664.2:g.130592862T>A	GRCh38
NC_000002.11:g.131350435T>A , CM000664.1:g.131350435T>A	GRCh37
NC_000002.10:g.131066905T>A	NCBI36
NG_008148.1:g.11648A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.*15A>T MANE Select	ENSP00000259216.5:n.*15A>T
ENST00000259216.4:c.*15A>T	ENSP00000259216.4:n.*15A>T
ENST00000615342.4:c.572A>T	ENSP00000480526.1:p.Lys191Ile
ENST00000621673.4:c.*15A>T	ENSP00000480843.1:n.*15A>T
NM_001270420.1:c.572A>T	NP_001257349.1:p.Lys191Ile
NM_001270421.1:c.*15A>T	NP_001257350.1:n.*15A>T
NM_032545.3:c.*15A>T	NP_115934.1:n.*15A>T
NM_032545.4:c.*15A>T MANE Select	NP_115934.1:n.*15A>T
NM_001270420.2:c.572A>T	NP_001257349.1:p.Lys191Ile
NM_001270421.2:c.*15A>T	NP_001257350.1:n.*15A>T