Canonical Allele Identifier: CA1288363428
Gene: CFC1 HGNC NCBI

Linked Data

dbSNP Id: rs1684849479
gnomAD v4: 2-130592864-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592864A>G , CM000664.2:g.130592864A>G GRCh38
NC_000002.11:g.131350437A>G , CM000664.1:g.131350437A>G GRCh37
NC_000002.10:g.131066907A>G NCBI36
NG_008148.1:g.11646T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.*13T>C MANE Select ENSP00000259216.5:n.*13T>C
ENST00000259216.4:c.*13T>C ENSP00000259216.4:n.*13T>C
ENST00000615342.4:c.570T>C ENSP00000480526.1:p.Cys190=
ENST00000621673.4:c.*13T>C ENSP00000480843.1:n.*13T>C
NM_001270420.1:c.570T>C NP_001257349.1:p.Cys190=
NM_001270421.1:c.*13T>C NP_001257350.1:n.*13T>C
NM_032545.3:c.*13T>C NP_115934.1:n.*13T>C
NM_032545.4:c.*13T>C MANE Select NP_115934.1:n.*13T>C
NM_001270420.2:c.570T>C NP_001257349.1:p.Cys190=
NM_001270421.2:c.*13T>C NP_001257350.1:n.*13T>C
Search 100 bp 5'
Search 100 bp 3'