Canonical Allele Identifier: CA2661125017

Gene: CFC1

Linked Data

• gnomAD v4: 2-130592951-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592952dup , CM000664.2:g.130592952dup	GRCh38
NC_000002.11:g.131350525dup , CM000664.1:g.131350525dup	GRCh37
NC_000002.10:g.131066995dup	NCBI36
NG_008148.1:g.11558dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.597dup MANE Select	ENSP00000259216.5:p.Arg200SerfsTer?
ENST00000259216.4:c.597dup	ENSP00000259216.4:p.Arg200SerfsTer?
ENST00000615342.4:c.482dup	ENSP00000480526.1:p.Gly162ArgfsTer25
ENST00000621673.4:c.372dup	ENSP00000480843.1:p.Arg125SerfsTer?
NM_001270420.1:c.482dup	NP_001257349.1:p.Gly162ArgfsTer25
NM_001270421.1:c.372dup	NP_001257350.1:p.Arg125SerfsTer?
NM_032545.3:c.597dup	NP_115934.1:p.Arg200SerfsTer?
NM_032545.4:c.597dup MANE Select	NP_115934.1:p.Arg200SerfsTer?
NM_001270420.2:c.482dup	NP_001257349.1:p.Gly162ArgfsTer25
NM_001270421.2:c.372dup	NP_001257350.1:p.Arg125SerfsTer?