Canonical Allele Identifier: CA352728557

Gene: NDUFAF3

Linked Data

• dbSNP Id: rs1402926696
• gnomAD v2: 3-49059942-C-G
• gnomAD v4: 3-49022509-C-G
• MyVariant Identifiers: chr3:g.49059942C>G (hg19) ; chr3:g.49022509C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022509C>G , CM000665.2:g.49022509C>G	GRCh38
NC_000003.11:g.49059942C>G , CM000665.1:g.49059942C>G	GRCh37
NC_000003.10:g.49034946C>G	NCBI36
NG_012091.1:g.11934G>C
NG_016282.1:g.7035C>G
NG_033126.1:g.3563G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326925.11:c.241C>G MANE Select	ENSP00000323076.5:p.Leu81Val
ENST00000326912.8:c.70C>G	ENSP00000323003.4:p.Leu24Val
ENST00000326925.10:c.241C>G	ENSP00000323076.5:p.Leu81Val
ENST00000395458.6:c.70C>G	ENSP00000378843.2:p.Leu24Val
ENST00000451378.2:c.70C>G	ENSP00000402465.2:p.Leu24Val
ENST00000480392.1:n.265C>G
ENST00000496152.1:n.397C>G
NM_199069.1:c.241C>G	NP_951032.1:p.Leu81Val
NM_199070.1:c.70C>G	NP_951033.1:p.Leu24Val
NM_199073.1:c.70C>G	NP_951047.1:p.Leu24Val
NM_199074.1:c.70C>G	NP_951056.1:p.Leu24Val
NM_199069.2:c.241C>G MANE Select	NP_951032.1:p.Leu81Val
NM_199070.2:c.70C>G	NP_951033.1:p.Leu24Val
NM_199073.2:c.70C>G	NP_951047.1:p.Leu24Val
NM_199074.2:c.70C>G	NP_951056.1:p.Leu24Val