Canonical Allele Identifier: CA433629021

Gene: NDUFAF3

Linked Data

• dbSNP Id: rs1559912458
• gnomAD v2: 3-49059881-C-A
• gnomAD v4: 3-49022448-C-A
• MyVariant Identifiers: chr3:g.49059881C>A (hg19) ; chr3:g.49022448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022448C>A , CM000665.2:g.49022448C>A	GRCh38
NC_000003.11:g.49059881C>A , CM000665.1:g.49059881C>A	GRCh37
NC_000003.10:g.49034885C>A	NCBI36
NG_012091.1:g.11995G>T
NG_016282.1:g.6974C>A
NG_033126.1:g.3624G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.180C>A MANE Select	ENSP00000323076.5:p.Ile60=
ENST00000326912.8:c.9C>A	ENSP00000323003.4:p.Ile3=
ENST00000326925.10:c.180C>A	ENSP00000323076.5:p.Ile60=
ENST00000395458.6:c.9C>A	ENSP00000378843.2:p.Ile3=
ENST00000451378.2:c.9C>A	ENSP00000402465.2:p.Ile3=
ENST00000480392.1:n.204C>A
ENST00000496152.1:n.336C>A
NM_199069.1:c.180C>A	NP_951032.1:p.Ile60=
NM_199070.1:c.9C>A	NP_951033.1:p.Ile3=
NM_199073.1:c.9C>A	NP_951047.1:p.Ile3=
NM_199074.1:c.9C>A	NP_951056.1:p.Ile3=
NM_199069.2:c.180C>A MANE Select	NP_951032.1:p.Ile60=
NM_199070.2:c.9C>A	NP_951033.1:p.Ile3=
NM_199073.2:c.9C>A	NP_951047.1:p.Ile3=
NM_199074.2:c.9C>A	NP_951056.1:p.Ile3=