Canonical Allele Identifier: CA2390231

Gene: NDUFAF3

Linked Data

• dbSNP Id: rs780103948
• ExAC: 3:49059999 T / G
• gnomAD v2: 3-49059999-T-G
• MyVariant Identifiers: chr3:g.49059999T>G (hg19) ; chr3:g.49022566T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022566T>G , CM000665.2:g.49022566T>G	GRCh38
NC_000003.11:g.49059999T>G , CM000665.1:g.49059999T>G	GRCh37
NC_000003.10:g.49035003T>G	NCBI36
NG_012091.1:g.11877A>C
NG_016282.1:g.7092T>G
NG_033126.1:g.3506A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.270+28T>G MANE Select	ENSP00000323076.5:n.270+28T>G
ENST00000326912.8:c.99+28T>G	ENSP00000323003.4:n.99+28T>G
ENST00000326925.10:c.270+28T>G	ENSP00000323076.5:n.270+28T>G
ENST00000395458.6:c.99+28T>G	ENSP00000378843.2:n.99+28T>G
ENST00000451378.2:c.99+28T>G	ENSP00000402465.2:n.99+28T>G
ENST00000480392.1:n.294+28T>G
ENST00000496152.1:n.426+28T>G
NM_199069.1:c.270+28T>G	NP_951032.1:n.270+28T>G
NM_199070.1:c.99+28T>G	NP_951033.1:n.99+28T>G
NM_199073.1:c.99+28T>G	NP_951047.1:n.99+28T>G
NM_199074.1:c.99+28T>G	NP_951056.1:n.99+28T>G
NM_199069.2:c.270+28T>G MANE Select	NP_951032.1:n.270+28T>G
NM_199070.2:c.99+28T>G	NP_951033.1:n.99+28T>G
NM_199073.2:c.99+28T>G	NP_951047.1:n.99+28T>G
NM_199074.2:c.99+28T>G	NP_951056.1:n.99+28T>G