Canonical Allele Identifier: CA2390213

Gene: NDUFAF3

Linked Data

• ClinVar Variation Id: 384581
• ClinVar RCV Id: RCV000958669
• dbSNP Id: rs142033692
• ExAC: 3:49059911 A / C
• gnomAD v2: 3-49059911-A-C
• gnomAD v3: 3-49022478-A-C
• gnomAD v4: 3-49022478-A-C
• MyVariant Identifiers: chr3:g.49059911A>C (hg19) ; chr3:g.49022478A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022478A>C , CM000665.2:g.49022478A>C	GRCh38
NC_000003.11:g.49059911A>C , CM000665.1:g.49059911A>C	GRCh37
NC_000003.10:g.49034915A>C	NCBI36
NG_012091.1:g.11965T>G
NG_016282.1:g.7004A>C
NG_033126.1:g.3594T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326925.11:c.210A>C MANE Select	ENSP00000323076.5:p.Ile70=
ENST00000326912.8:c.39A>C	ENSP00000323003.4:p.Ile13=
ENST00000326925.10:c.210A>C	ENSP00000323076.5:p.Ile70=
ENST00000395458.6:c.39A>C	ENSP00000378843.2:p.Ile13=
ENST00000451378.2:c.39A>C	ENSP00000402465.2:p.Ile13=
ENST00000480392.1:n.234A>C
ENST00000496152.1:n.366A>C
NM_199069.1:c.210A>C	NP_951032.1:p.Ile70=
NM_199070.1:c.39A>C	NP_951033.1:p.Ile13=
NM_199073.1:c.39A>C	NP_951047.1:p.Ile13=
NM_199074.1:c.39A>C	NP_951056.1:p.Ile13=
NM_199069.2:c.210A>C MANE Select	NP_951032.1:p.Ile70=
NM_199070.2:c.39A>C	NP_951033.1:p.Ile13=
NM_199073.2:c.39A>C	NP_951047.1:p.Ile13=
NM_199074.2:c.39A>C	NP_951056.1:p.Ile13=