Canonical Allele Identifier: CA348502127
Gene: CFC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.131350436T>G (hg19) chr2:g.130592863T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592863T>G , CM000664.2:g.130592863T>G GRCh38
NC_000002.11:g.131350436T>G , CM000664.1:g.131350436T>G GRCh37
NC_000002.10:g.131066906T>G NCBI36
NG_008148.1:g.11647A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.*14A>C MANE Select ENSP00000259216.5:n.*14A>C
ENST00000259216.4:c.*14A>C ENSP00000259216.4:n.*14A>C
ENST00000615342.4:c.571A>C ENSP00000480526.1:p.Lys191Gln
ENST00000621673.4:c.*14A>C ENSP00000480843.1:n.*14A>C
NM_001270420.1:c.571A>C NP_001257349.1:p.Lys191Gln
NM_001270421.1:c.*14A>C NP_001257350.1:n.*14A>C
NM_032545.3:c.*14A>C NP_115934.1:n.*14A>C
NM_032545.4:c.*14A>C MANE Select NP_115934.1:n.*14A>C
NM_001270420.2:c.571A>C NP_001257349.1:p.Lys191Gln
NM_001270421.2:c.*14A>C NP_001257350.1:n.*14A>C
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