Canonical Allele Identifier: CA348502146
Gene: CFC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.131350444A>T (hg19) chr2:g.130592871A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592871A>T , CM000664.2:g.130592871A>T GRCh38
NC_000002.11:g.131350444A>T , CM000664.1:g.131350444A>T GRCh37
NC_000002.10:g.131066914A>T NCBI36
NG_008148.1:g.11639T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259216.6:c.*6T>A MANE Select ENSP00000259216.5:n.*6T>A
ENST00000259216.4:c.*6T>A ENSP00000259216.4:n.*6T>A
ENST00000615342.4:c.563T>A ENSP00000480526.1:p.Leu188Gln
ENST00000621673.4:c.*6T>A ENSP00000480843.1:n.*6T>A
NM_001270420.1:c.563T>A NP_001257349.1:p.Leu188Gln
NM_001270421.1:c.*6T>A NP_001257350.1:n.*6T>A
NM_032545.3:c.*6T>A NP_115934.1:n.*6T>A
NM_032545.4:c.*6T>A MANE Select NP_115934.1:n.*6T>A
NM_001270420.2:c.563T>A NP_001257349.1:p.Leu188Gln
NM_001270421.2:c.*6T>A NP_001257350.1:n.*6T>A
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