Canonical Allele Identifier: CA2052325

Gene: NDUFB3

Linked Data

• ClinVar Variation Id: 809137
• ClinVar RCV Id: RCV000997642
• dbSNP Id: rs747403932
• ExAC: 2:201950241 TC / T
• gnomAD v2: 2-201950241-TC-T
• gnomAD v3: 2-201085518-TC-T
• gnomAD v4: 2-201085518-TC-T
• MyVariant Identifiers: chr2:g.201950242del (hg19) ; chr2:g.201085519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201085519del , CM000664.2:g.201085519del	GRCh38
NC_000002.11:g.201950242del , CM000664.1:g.201950242del	GRCh37
NC_000002.10:g.201658487del	NCBI36
NG_032156.1:g.18781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450023.6:c.201del	ENSP00000401834.2:p.Phe68LeufsTer13
ENST00000682325.1:c.201del	ENSP00000507925.1:p.Phe68LeufsTer13
ENST00000684175.1:c.201del	ENSP00000508132.1:p.Phe68LeufsTer13
ENST00000684420.1:c.201del	ENSP00000508208.1:p.Phe68LeufsTer13
ENST00000237889.9:c.201del MANE Select	ENSP00000237889.4:p.Phe68LeufsTer13
ENST00000237889.8:c.201del	ENSP00000237889.4:p.Phe68LeufsTer13
ENST00000433898.5:c.201del	ENSP00000410600.1:p.Phe68LeufsTer13
ENST00000454214.1:c.201del	ENSP00000407336.1:p.Phe68LeufsTer13
NM_001257102.1:c.201del	NP_001244031.1:p.Phe68LeufsTer13
NM_002491.2:c.201del	NP_002482.1:p.Phe68LeufsTer13
XM_011511230.1:c.201del	XP_011509532.1:p.Phe68LeufsTer13
XM_011511230.3:c.201del	XP_011509532.1:p.Phe68LeufsTer13
XM_017004186.2:c.201del	XP_016859675.1:p.Phe68LeufsTer13
NM_002491.3:c.201del MANE Select	NP_002482.1:p.Phe68LeufsTer13
NM_001257102.2:c.201del	NP_001244031.1:p.Phe68LeufsTer13