Canonical Allele Identifier: CA348502121
Gene: CFC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.131350434T>G (hg19) chr2:g.130592861T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592861T>G , CM000664.2:g.130592861T>G GRCh38
NC_000002.11:g.131350434T>G , CM000664.1:g.131350434T>G GRCh37
NC_000002.10:g.131066904T>G NCBI36
NG_008148.1:g.11649A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.*16A>C MANE Select ENSP00000259216.5:n.*16A>C
ENST00000259216.4:c.*16A>C ENSP00000259216.4:n.*16A>C
ENST00000615342.4:c.573A>C ENSP00000480526.1:p.Lys191Asn
ENST00000621673.4:c.*16A>C ENSP00000480843.1:n.*16A>C
NM_001270420.1:c.573A>C NP_001257349.1:p.Lys191Asn
NM_001270421.1:c.*16A>C NP_001257350.1:n.*16A>C
NM_032545.3:c.*16A>C NP_115934.1:n.*16A>C
NM_032545.4:c.*16A>C MANE Select NP_115934.1:n.*16A>C
NM_001270420.2:c.573A>C NP_001257349.1:p.Lys191Asn
NM_001270421.2:c.*16A>C NP_001257350.1:n.*16A>C
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