Canonical Allele Identifier: CA1036409617

Gene: CFC1

Linked Data

• dbSNP Id: rs1684849340
• gnomAD v3: 2-130592851-AC-A
• gnomAD v4: 2-130592851-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592852del , CM000664.2:g.130592852del	GRCh38
NC_000002.11:g.131350425del , CM000664.1:g.131350425del	GRCh37
NC_000002.10:g.131066895del	NCBI36
NG_008148.1:g.11658del

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.*25del MANE Select	ENSP00000259216.5:n.*25del
ENST00000259216.4:c.*25del	ENSP00000259216.4:n.*25del
ENST00000615342.4:c.*6del	ENSP00000480526.1:n.*6del
ENST00000621673.4:c.*25del	ENSP00000480843.1:n.*25del
NM_001270420.1:c.*6del	NP_001257349.1:n.*6del
NM_001270421.1:c.*25del	NP_001257350.1:n.*25del
NM_032545.3:c.*25del	NP_115934.1:n.*25del
NM_032545.4:c.*25del MANE Select	NP_115934.1:n.*25del
NM_001270420.2:c.*6del	NP_001257349.1:n.*6del
NM_001270421.2:c.*25del	NP_001257350.1:n.*25del