Canonical Allele Identifier: CA352727463

Gene: NDUFAF3

Linked Data

• gnomAD v4: 3-49022404-C-T
• MyVariant Identifiers: chr3:g.49059837C>T (hg19) ; chr3:g.49022404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022404C>T , CM000665.2:g.49022404C>T	GRCh38
NC_000003.11:g.49059837C>T , CM000665.1:g.49059837C>T	GRCh37
NC_000003.10:g.49034841C>T	NCBI36
NG_012091.1:g.12039G>A
NG_016282.1:g.6930C>T
NG_033126.1:g.3668G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326925.11:c.136C>T MANE Select	ENSP00000323076.5:p.Arg46Cys
ENST00000326912.8:c.-36C>T	ENSP00000323003.4:n.-36C>T
ENST00000326925.10:c.136C>T	ENSP00000323076.5:p.Arg46Cys
ENST00000395458.6:c.-36C>T	ENSP00000378843.2:n.-36C>T
ENST00000451378.2:c.-36C>T	ENSP00000402465.2:n.-36C>T
ENST00000480392.1:n.160C>T
ENST00000496152.1:n.292C>T
NM_199069.1:c.136C>T	NP_951032.1:p.Arg46Cys
NM_199070.1:c.-36C>T	NP_951033.1:n.-36C>T
NM_199073.1:c.-36C>T	NP_951047.1:n.-36C>T
NM_199074.1:c.-36C>T	NP_951056.1:n.-36C>T
NM_199069.2:c.136C>T MANE Select	NP_951032.1:p.Arg46Cys
NM_199070.2:c.-36C>T	NP_951033.1:n.-36C>T
NM_199073.2:c.-36C>T	NP_951047.1:n.-36C>T
NM_199074.2:c.-36C>T	NP_951056.1:n.-36C>T