Canonical Allele Identifier: CA269681265

Gene: NDUFAF1

Linked Data

• ClinVar Variation Id: 1904354
• ClinVar RCV Id: RCV002577639
• dbSNP Id: rs916186957
• gnomAD v2: 15-41689040-G-C
• gnomAD v4: 15-41396842-G-C
• MyVariant Identifiers: chr15:g.41689040G>C (hg19) ; chr15:g.41396842G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396842G>C , CM000677.2:g.41396842G>C	GRCh38
NC_000015.9:g.41689040G>C , CM000677.1:g.41689040G>C	GRCh37
NC_000015.8:g.39476332G>C	NCBI36
NG_031924.1:g.10619C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.218C>G MANE Select	ENSP00000260361.4:p.Ser73Cys
ENST00000558719.2:c.218C>G	ENSP00000454083.2:p.Ser73Cys
ENST00000560978.2:c.218C>G	ENSP00000453944.2:p.Ser73Cys
ENST00000676533.1:c.218C>G	ENSP00000504040.1:p.Ser73Cys
ENST00000676906.1:c.-242C>G	ENSP00000503122.1:n.-242C>G
ENST00000677477.1:n.1444C>G
ENST00000678029.1:c.218C>G	ENSP00000503887.1:p.Ser73Cys
ENST00000678745.1:c.218C>G	ENSP00000503632.1:p.Ser73Cys
ENST00000679094.1:c.218C>G	ENSP00000504295.1:p.Ser73Cys
ENST00000679240.1:n.616C>G
ENST00000260361.8:c.218C>G	ENSP00000260361.4:p.Ser73Cys
ENST00000558719.1:c.218C>G	ENSP00000454083.1:p.Ser73Cys
ENST00000559127.5:c.218C>G	ENSP00000453027.1:p.Ser73Cys
ENST00000560978.1:c.218C>G	ENSP00000453944.1:p.Ser73Cys
NM_016013.3:c.218C>G	NP_057097.2:p.Ser73Cys
NR_045620.1:n.616C>G
XM_006720555.1:c.218C>G	XP_006720618.1:p.Ser73Cys
XM_011521658.1:c.218C>G	XP_011519960.1:p.Ser73Cys
XM_011521659.1:c.218C>G	XP_011519961.1:p.Ser73Cys
XM_006720555.3:c.218C>G	XP_006720618.1:p.Ser73Cys
XM_011521659.3:c.218C>G	XP_011519961.1:p.Ser73Cys
XM_024449945.1:c.218C>G	XP_024305713.1:p.Ser73Cys
NM_016013.4:c.218C>G MANE Select	NP_057097.2:p.Ser73Cys
NR_045620.2:n.652C>G