Canonical Allele Identifier: CA352727805

Gene: NDUFAF3

Linked Data

• dbSNP Id: rs1468909521
• gnomAD v2: 3-49059868-A-T
• gnomAD v4: 3-49022435-A-T
• MyVariant Identifiers: chr3:g.49059868A>T (hg19) ; chr3:g.49022435A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022435A>T , CM000665.2:g.49022435A>T	GRCh38
NC_000003.11:g.49059868A>T , CM000665.1:g.49059868A>T	GRCh37
NC_000003.10:g.49034872A>T	NCBI36
NG_012091.1:g.12008T>A
NG_016282.1:g.6961A>T
NG_033126.1:g.3637T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.167A>T MANE Select	ENSP00000323076.5:p.Gln56Leu
ENST00000326912.8:c.-5A>T	ENSP00000323003.4:n.-5A>T
ENST00000326925.10:c.167A>T	ENSP00000323076.5:p.Gln56Leu
ENST00000395458.6:c.-5A>T	ENSP00000378843.2:n.-5A>T
ENST00000451378.2:c.-5A>T	ENSP00000402465.2:n.-5A>T
ENST00000480392.1:n.191A>T
ENST00000496152.1:n.323A>T
NM_199069.1:c.167A>T	NP_951032.1:p.Gln56Leu
NM_199070.1:c.-5A>T	NP_951033.1:n.-5A>T
NM_199073.1:c.-5A>T	NP_951047.1:n.-5A>T
NM_199074.1:c.-5A>T	NP_951056.1:n.-5A>T
NM_199069.2:c.167A>T MANE Select	NP_951032.1:p.Gln56Leu
NM_199070.2:c.-5A>T	NP_951033.1:n.-5A>T
NM_199073.2:c.-5A>T	NP_951047.1:n.-5A>T
NM_199074.2:c.-5A>T	NP_951056.1:n.-5A>T