Canonical Allele Identifier: CA352728736

Gene: NDUFAF3

Linked Data

• dbSNP Id: rs1490281636
• gnomAD v2: 3-49059964-A-G
• gnomAD v4: 3-49022531-A-G
• MyVariant Identifiers: chr3:g.49059964A>G (hg19) ; chr3:g.49022531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022531A>G , CM000665.2:g.49022531A>G	GRCh38
NC_000003.11:g.49059964A>G , CM000665.1:g.49059964A>G	GRCh37
NC_000003.10:g.49034968A>G	NCBI36
NG_012091.1:g.11912T>C
NG_016282.1:g.7057A>G
NG_033126.1:g.3541T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.263A>G MANE Select	ENSP00000323076.5:p.Gln88Arg
ENST00000326912.8:c.92A>G	ENSP00000323003.4:p.Gln31Arg
ENST00000326925.10:c.263A>G	ENSP00000323076.5:p.Gln88Arg
ENST00000395458.6:c.92A>G	ENSP00000378843.2:p.Gln31Arg
ENST00000451378.2:c.92A>G	ENSP00000402465.2:p.Gln31Arg
ENST00000480392.1:n.287A>G
ENST00000496152.1:n.419A>G
NM_199069.1:c.263A>G	NP_951032.1:p.Gln88Arg
NM_199070.1:c.92A>G	NP_951033.1:p.Gln31Arg
NM_199073.1:c.92A>G	NP_951047.1:p.Gln31Arg
NM_199074.1:c.92A>G	NP_951056.1:p.Gln31Arg
NM_199069.2:c.263A>G MANE Select	NP_951032.1:p.Gln88Arg
NM_199070.2:c.92A>G	NP_951033.1:p.Gln31Arg
NM_199073.2:c.92A>G	NP_951047.1:p.Gln31Arg
NM_199074.2:c.92A>G	NP_951056.1:p.Gln31Arg