Canonical Allele Identifier: CA281557
Gene: CFC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5190
ClinVar RCV Id: RCV000005500
dbSNP Id: rs863223280
gnomAD v4: 2-130597849-C-CGCGCACCCCTGTGCCCACCT
MyVariant Identifiers: chr2:g.131355424_131355443dup20 (hg19) chr2:g.130597851_130597870dup20 (hg38)
PubMed: PMID:11799476
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130597854_130597873dup , CM000664.2:g.130597854_130597873dup GRCh38
NC_000002.11:g.131355427_131355446dup , CM000664.1:g.131355427_131355446dup GRCh37
NC_000002.10:g.131071897_131071916dup NCBI36
NG_008148.1:g.6641_6660dup

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.361_362+18dup
ENST00000259216.4:c.361_362+18dup
ENST00000615342.4:c.248-266_248-247dup ENSP00000480526.1:n.248-266_248-247dup
ENST00000621673.4:c.247+773_247+792dup ENSP00000480843.1:n.247+773_247+792dup
NM_001270420.1:c.248-266_248-247dup NP_001257349.1:n.248-266_248-247dup
NM_001270421.1:c.247+773_247+792dup NP_001257350.1:n.247+773_247+792dup
NM_032545.3:c.361_362+18dup
NM_032545.4:c.361_362+18dup
NM_001270420.2:c.248-266_248-247dup NP_001257349.1:n.248-266_248-247dup
NM_001270421.2:c.247+773_247+792dup NP_001257350.1:n.247+773_247+792dup
Search 100 bp 5'
Search 100 bp 3'