Canonical Allele Identifier: CA348502131
Gene: CFC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.131350438C>G (hg19) chr2:g.130592865C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592865C>G , CM000664.2:g.130592865C>G GRCh38
NC_000002.11:g.131350438C>G , CM000664.1:g.131350438C>G GRCh37
NC_000002.10:g.131066908C>G NCBI36
NG_008148.1:g.11645G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.*12G>C MANE Select ENSP00000259216.5:n.*12G>C
ENST00000259216.4:c.*12G>C ENSP00000259216.4:n.*12G>C
ENST00000615342.4:c.569G>C ENSP00000480526.1:p.Cys190Ser
ENST00000621673.4:c.*12G>C ENSP00000480843.1:n.*12G>C
NM_001270420.1:c.569G>C NP_001257349.1:p.Cys190Ser
NM_001270421.1:c.*12G>C NP_001257350.1:n.*12G>C
NM_032545.3:c.*12G>C NP_115934.1:n.*12G>C
NM_032545.4:c.*12G>C MANE Select NP_115934.1:n.*12G>C
NM_001270420.2:c.569G>C NP_001257349.1:p.Cys190Ser
NM_001270421.2:c.*12G>C NP_001257350.1:n.*12G>C
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