Canonical Allele Identifier: CA348502136
Gene: CFC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.131350440A>C (hg19) chr2:g.130592867A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592867A>C , CM000664.2:g.130592867A>C GRCh38
NC_000002.11:g.131350440A>C , CM000664.1:g.131350440A>C GRCh37
NC_000002.10:g.131066910A>C NCBI36
NG_008148.1:g.11643T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.*10T>G MANE Select ENSP00000259216.5:n.*10T>G
ENST00000259216.4:c.*10T>G ENSP00000259216.4:n.*10T>G
ENST00000615342.4:c.567T>G ENSP00000480526.1:p.Cys189Trp
ENST00000621673.4:c.*10T>G ENSP00000480843.1:n.*10T>G
NM_001270420.1:c.567T>G NP_001257349.1:p.Cys189Trp
NM_001270421.1:c.*10T>G NP_001257350.1:n.*10T>G
NM_032545.3:c.*10T>G NP_115934.1:n.*10T>G
NM_032545.4:c.*10T>G MANE Select NP_115934.1:n.*10T>G
NM_001270420.2:c.567T>G NP_001257349.1:p.Cys189Trp
NM_001270421.2:c.*10T>G NP_001257350.1:n.*10T>G
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