Canonical Allele Identifier: CA7491336

Gene: NDUFAF1

Linked Data

• ClinVar Variation Id: 1213729
• ClinVar RCV Id: RCV001591678 ; RCV003120639 ; RCV004039483
• dbSNP Id: rs571701028
• ExAC: 15:41688801 T / C
• gnomAD v2: 15-41688801-T-C
• gnomAD v3: 15-41396603-T-C
• gnomAD v4: 15-41396603-T-C
• MyVariant Identifiers: chr15:g.41688801T>C (hg19) ; chr15:g.41396603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396603T>C , CM000677.2:g.41396603T>C	GRCh38
NC_000015.9:g.41688801T>C , CM000677.1:g.41688801T>C	GRCh37
NC_000015.8:g.39476093T>C	NCBI36
NG_031924.1:g.10858A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.457A>G MANE Select	ENSP00000260361.4:p.Lys153Glu
ENST00000558719.2:c.457A>G	ENSP00000454083.2:p.Lys153Glu
ENST00000560978.2:c.457A>G	ENSP00000453944.2:p.Lys153Glu
ENST00000676533.1:c.457A>G	ENSP00000504040.1:p.Lys153Glu
ENST00000676906.1:c.-3A>G	ENSP00000503122.1:n.-3A>G
ENST00000677477.1:n.1683A>G
ENST00000678029.1:c.457A>G	ENSP00000503887.1:p.Lys153Glu
ENST00000678745.1:c.457A>G	ENSP00000503632.1:p.Lys153Glu
ENST00000679094.1:c.457A>G	ENSP00000504295.1:p.Lys153Glu
ENST00000679240.1:n.855A>G
ENST00000260361.8:c.457A>G	ENSP00000260361.4:p.Lys153Glu
ENST00000558719.1:c.457A>G	ENSP00000454083.1:p.Lys153Glu
ENST00000559127.5:c.457A>G	ENSP00000453027.1:p.Lys153Glu
ENST00000560978.1:c.457A>G	ENSP00000453944.1:p.Lys153Glu
NM_016013.3:c.457A>G	NP_057097.2:p.Lys153Glu
NR_045620.1:n.855A>G
XM_006720555.1:c.457A>G	XP_006720618.1:p.Lys153Glu
XM_011521658.1:c.457A>G	XP_011519960.1:p.Lys153Glu
XM_011521659.1:c.457A>G	XP_011519961.1:p.Lys153Glu
XM_006720555.3:c.457A>G	XP_006720618.1:p.Lys153Glu
XM_011521659.3:c.457A>G	XP_011519961.1:p.Lys153Glu
XM_024449945.1:c.457A>G	XP_024305713.1:p.Lys153Glu
NM_016013.4:c.457A>G MANE Select	NP_057097.2:p.Lys153Glu
NR_045620.2:n.891A>G