Canonical Allele Identifier: CA352728616

Gene: NDUFAF3

Linked Data

• ClinVar Variation Id: 1473689
• ClinVar RCV Id: RCV001970818
• dbSNP Id: rs1375889507
• gnomAD v4: 3-49022516-C-T
• MyVariant Identifiers: chr3:g.49059949C>T (hg19) ; chr3:g.49022516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022516C>T , CM000665.2:g.49022516C>T	GRCh38
NC_000003.11:g.49059949C>T , CM000665.1:g.49059949C>T	GRCh37
NC_000003.10:g.49034953C>T	NCBI36
NG_012091.1:g.11927G>A
NG_016282.1:g.7042C>T
NG_033126.1:g.3556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.248C>T MANE Select	ENSP00000323076.5:p.Pro83Leu
ENST00000326912.8:c.77C>T	ENSP00000323003.4:p.Pro26Leu
ENST00000326925.10:c.248C>T	ENSP00000323076.5:p.Pro83Leu
ENST00000395458.6:c.77C>T	ENSP00000378843.2:p.Pro26Leu
ENST00000451378.2:c.77C>T	ENSP00000402465.2:p.Pro26Leu
ENST00000480392.1:n.272C>T
ENST00000496152.1:n.404C>T
NM_199069.1:c.248C>T	NP_951032.1:p.Pro83Leu
NM_199070.1:c.77C>T	NP_951033.1:p.Pro26Leu
NM_199073.1:c.77C>T	NP_951047.1:p.Pro26Leu
NM_199074.1:c.77C>T	NP_951056.1:p.Pro26Leu
NM_199069.2:c.248C>T MANE Select	NP_951032.1:p.Pro83Leu
NM_199070.2:c.77C>T	NP_951033.1:p.Pro26Leu
NM_199073.2:c.77C>T	NP_951047.1:p.Pro26Leu
NM_199074.2:c.77C>T	NP_951056.1:p.Pro26Leu