Canonical Allele Identifier: CA391809818

Gene: NDUFAF1

Linked Data

• ClinVar Variation Id: 1370785
• ClinVar RCV Id: RCV001899428
• dbSNP Id: rs2140922487
• MyVariant Identifiers: chr15:g.41688709A>C (hg19) ; chr15:g.41396511A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396511A>C , CM000677.2:g.41396511A>C	GRCh38
NC_000015.9:g.41688709A>C , CM000677.1:g.41688709A>C	GRCh37
NC_000015.8:g.39476001A>C	NCBI36
NG_031924.1:g.10950T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.549T>G MANE Select	ENSP00000260361.4:p.Cys183Trp
ENST00000558719.2:c.549T>G	ENSP00000454083.2:p.Cys183Trp
ENST00000560978.2:c.549T>G	ENSP00000453944.2:p.Cys183Trp
ENST00000676533.1:c.549T>G	ENSP00000504040.1:p.Cys183Trp
ENST00000676906.1:c.90T>G	ENSP00000503122.1:p.Cys30Trp
ENST00000677477.1:n.1775T>G
ENST00000678029.1:c.549T>G	ENSP00000503887.1:p.Cys183Trp
ENST00000678745.1:c.549T>G	ENSP00000503632.1:p.Cys183Trp
ENST00000679094.1:c.549T>G	ENSP00000504295.1:p.Cys183Trp
ENST00000679240.1:n.947T>G
ENST00000260361.8:c.549T>G	ENSP00000260361.4:p.Cys183Trp
ENST00000558719.1:c.549T>G	ENSP00000454083.1:p.Cys183Trp
ENST00000559127.5:c.549T>G	ENSP00000453027.1:p.Cys183Trp
ENST00000560978.1:c.549T>G	ENSP00000453944.1:p.Cys183Trp
NM_016013.3:c.549T>G	NP_057097.2:p.Cys183Trp
NR_045620.1:n.947T>G
XM_006720555.1:c.549T>G	XP_006720618.1:p.Cys183Trp
XM_011521658.1:c.549T>G	XP_011519960.1:p.Cys183Trp
XM_011521659.1:c.549T>G	XP_011519961.1:p.Cys183Trp
XM_006720555.3:c.549T>G	XP_006720618.1:p.Cys183Trp
XM_011521659.3:c.549T>G	XP_011519961.1:p.Cys183Trp
XM_024449945.1:c.549T>G	XP_024305713.1:p.Cys183Trp
NM_016013.4:c.549T>G MANE Select	NP_057097.2:p.Cys183Trp
NR_045620.2:n.983T>G