Canonical Allele Identifier: CA1036409766

Gene: CFC1

Linked Data

• dbSNP Id: rs1684857377
• gnomAD v3: 2-130592996-C-CA
• gnomAD v4: 2-130592996-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592996_130592997insA , CM000664.2:g.130592996_130592997insA	GRCh38
NC_000002.11:g.131350569_131350570insA , CM000664.1:g.131350569_131350570insA	GRCh37
NC_000002.10:g.131067039_131067040insA	NCBI36
NG_008148.1:g.11513_11514insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.552_553insT MANE Select	ENSP00000259216.5:p.Ala185CysfsTer?
ENST00000259216.4:c.552_553insT	ENSP00000259216.4:p.Ala185CysfsTer?
ENST00000615342.4:c.437_438insT	ENSP00000480526.1:p.His147AlafsTer?
ENST00000621673.4:c.327_328insT	ENSP00000480843.1:p.Ala110CysfsTer?
NM_001270420.1:c.437_438insT	NP_001257349.1:p.His147AlafsTer?
NM_001270421.1:c.327_328insT	NP_001257350.1:p.Ala110CysfsTer?
NM_032545.3:c.552_553insT	NP_115934.1:p.Ala185CysfsTer?
NM_032545.4:c.552_553insT MANE Select	NP_115934.1:p.Ala185CysfsTer?
NM_001270420.2:c.437_438insT	NP_001257349.1:p.His147AlafsTer?
NM_001270421.2:c.327_328insT	NP_001257350.1:p.Ala110CysfsTer?