Canonical Allele Identifier: CA2390207

Gene: NDUFAF3

Linked Data

• ClinVar Variation Id: 377248
• ClinVar RCV Id: RCV000424141 ; RCV001336162 ; RCV002524733 ; RCV003152601
• dbSNP Id: rs756339822
• ExAC: 3:49059888 T / TA
• gnomAD v2: 3-49059888-T-TA
• gnomAD v3: 3-49022455-T-TA
• gnomAD v4: 3-49022455-T-TA
• MyVariant Identifiers: chr3:g.49059889dupA (hg19) ; chr3:g.49059888_49059889insA (hg19) ; chr3:g.49022456dupA (hg38) ; chr3:g.49022455_49022456insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022456dup , CM000665.2:g.49022456dup	GRCh38
NC_000003.11:g.49059889dup , CM000665.1:g.49059889dup	GRCh37
NC_000003.10:g.49034893dup	NCBI36
NG_012091.1:g.11987dup
NG_016282.1:g.6982dup
NG_033126.1:g.3616dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.188dup MANE Select	ENSP00000323076.5:p.Tyr63Ter
ENST00000326912.8:c.17dup	ENSP00000323003.4:p.Tyr6Ter
ENST00000326925.10:c.188dup	ENSP00000323076.5:p.Tyr63Ter
ENST00000395458.6:c.17dup	ENSP00000378843.2:p.Tyr6Ter
ENST00000451378.2:c.17dup	ENSP00000402465.2:p.Tyr6Ter
ENST00000480392.1:n.212dup
ENST00000496152.1:n.344dup
NM_199069.1:c.188dup	NP_951032.1:p.Tyr63Ter
NM_199070.1:c.17dup	NP_951033.1:p.Tyr6Ter
NM_199073.1:c.17dup	NP_951047.1:p.Tyr6Ter
NM_199074.1:c.17dup	NP_951056.1:p.Tyr6Ter
NM_199069.2:c.188dup MANE Select	NP_951032.1:p.Tyr63Ter
NM_199070.2:c.17dup	NP_951033.1:p.Tyr6Ter
NM_199073.2:c.17dup	NP_951047.1:p.Tyr6Ter
NM_199074.2:c.17dup	NP_951056.1:p.Tyr6Ter