Canonical Allele Identifier: CA352727921

Gene: NDUFAF3

Linked Data

• dbSNP Id: rs1283790096
• gnomAD v2: 3-49059879-A-T
• gnomAD v3: 3-49022446-A-T
• gnomAD v4: 3-49022446-A-T
• MyVariant Identifiers: chr3:g.49059879A>T (hg19) ; chr3:g.49022446A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022446A>T , CM000665.2:g.49022446A>T	GRCh38
NC_000003.11:g.49059879A>T , CM000665.1:g.49059879A>T	GRCh37
NC_000003.10:g.49034883A>T	NCBI36
NG_012091.1:g.11997T>A
NG_016282.1:g.6972A>T
NG_033126.1:g.3626T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.178A>T MANE Select	ENSP00000323076.5:p.Ile60Phe
ENST00000326912.8:c.7A>T	ENSP00000323003.4:p.Ile3Phe
ENST00000326925.10:c.178A>T	ENSP00000323076.5:p.Ile60Phe
ENST00000395458.6:c.7A>T	ENSP00000378843.2:p.Ile3Phe
ENST00000451378.2:c.7A>T	ENSP00000402465.2:p.Ile3Phe
ENST00000480392.1:n.202A>T
ENST00000496152.1:n.334A>T
NM_199069.1:c.178A>T	NP_951032.1:p.Ile60Phe
NM_199070.1:c.7A>T	NP_951033.1:p.Ile3Phe
NM_199073.1:c.7A>T	NP_951047.1:p.Ile3Phe
NM_199074.1:c.7A>T	NP_951056.1:p.Ile3Phe
NM_199069.2:c.178A>T MANE Select	NP_951032.1:p.Ile60Phe
NM_199070.2:c.7A>T	NP_951033.1:p.Ile3Phe
NM_199073.2:c.7A>T	NP_951047.1:p.Ile3Phe
NM_199074.2:c.7A>T	NP_951056.1:p.Ile3Phe