Canonical Allele Identifier: CA7491326

Gene: NDUFAF1

Linked Data

• ClinVar Variation Id: 2714842
• ClinVar RCV Id: RCV003553015
• dbSNP Id: rs373384879
• ExAC: 15:41688736 G / A
• gnomAD v2: 15-41688736-G-A
• gnomAD v3: 15-41396538-G-A
• gnomAD v4: 15-41396538-G-A
• COSMIC: COSM1608339
• MyVariant Identifiers: chr15:g.41688736G>A (hg19) ; chr15:g.41396538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396538G>A , CM000677.2:g.41396538G>A	GRCh38
NC_000015.9:g.41688736G>A , CM000677.1:g.41688736G>A	GRCh37
NC_000015.8:g.39476028G>A	NCBI36
NG_031924.1:g.10923C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260361.9:c.522C>T MANE Select	ENSP00000260361.4:p.Asp174=
ENST00000558719.2:c.522C>T	ENSP00000454083.2:p.Asp174=
ENST00000560978.2:c.522C>T	ENSP00000453944.2:p.Asp174=
ENST00000676533.1:c.522C>T	ENSP00000504040.1:p.Asp174=
ENST00000676906.1:c.63C>T	ENSP00000503122.1:p.Asp21=
ENST00000677477.1:n.1748C>T
ENST00000678029.1:c.522C>T	ENSP00000503887.1:p.Asp174=
ENST00000678745.1:c.522C>T	ENSP00000503632.1:p.Asp174=
ENST00000679094.1:c.522C>T	ENSP00000504295.1:p.Asp174=
ENST00000679240.1:n.920C>T
ENST00000260361.8:c.522C>T	ENSP00000260361.4:p.Asp174=
ENST00000558719.1:c.522C>T	ENSP00000454083.1:p.Asp174=
ENST00000559127.5:c.522C>T	ENSP00000453027.1:p.Asp174=
ENST00000560978.1:c.522C>T	ENSP00000453944.1:p.Asp174=
NM_016013.3:c.522C>T	NP_057097.2:p.Asp174=
NR_045620.1:n.920C>T
XM_006720555.1:c.522C>T	XP_006720618.1:p.Asp174=
XM_011521658.1:c.522C>T	XP_011519960.1:p.Asp174=
XM_011521659.1:c.522C>T	XP_011519961.1:p.Asp174=
XM_006720555.3:c.522C>T	XP_006720618.1:p.Asp174=
XM_011521659.3:c.522C>T	XP_011519961.1:p.Asp174=
XM_024449945.1:c.522C>T	XP_024305713.1:p.Asp174=
NM_016013.4:c.522C>T MANE Select	NP_057097.2:p.Asp174=
NR_045620.2:n.956C>T