Canonical Allele Identifier: CA391810561
Gene: NDUFAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713824
ClinVar RCV Id: RCV002295606
dbSNP Id: rs1257782096

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41396852C>G , CM000677.2:g.41396852C>G GRCh38
NC_000015.9:g.41689050C>G , CM000677.1:g.41689050C>G GRCh37
NC_000015.8:g.39476342C>G NCBI36
NG_031924.1:g.10609G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260361.9:c.208G>C MANE Select ENSP00000260361.4:p.Asp70His
ENST00000558719.2:c.208G>C ENSP00000454083.2:p.Asp70His
ENST00000560978.2:c.208G>C ENSP00000453944.2:p.Asp70His
ENST00000676533.1:c.208G>C ENSP00000504040.1:p.Asp70His
ENST00000676906.1:c.-252G>C ENSP00000503122.1:n.-252G>C
ENST00000677477.1:n.1434G>C
ENST00000678029.1:c.208G>C ENSP00000503887.1:p.Asp70His
ENST00000678745.1:c.208G>C ENSP00000503632.1:p.Asp70His
ENST00000679094.1:c.208G>C ENSP00000504295.1:p.Asp70His
ENST00000679240.1:n.606G>C
ENST00000260361.8:c.208G>C ENSP00000260361.4:p.Asp70His
ENST00000558719.1:c.208G>C ENSP00000454083.1:p.Asp70His
ENST00000559127.5:c.208G>C ENSP00000453027.1:p.Asp70His
ENST00000560978.1:c.208G>C ENSP00000453944.1:p.Asp70His
NM_016013.3:c.208G>C NP_057097.2:p.Asp70His
NR_045620.1:n.606G>C
XM_006720555.1:c.208G>C XP_006720618.1:p.Asp70His
XM_011521658.1:c.208G>C XP_011519960.1:p.Asp70His
XM_011521659.1:c.208G>C XP_011519961.1:p.Asp70His
XM_006720555.3:c.208G>C XP_006720618.1:p.Asp70His
XM_011521659.3:c.208G>C XP_011519961.1:p.Asp70His
XM_024449945.1:c.208G>C XP_024305713.1:p.Asp70His
NM_016013.4:c.208G>C MANE Select NP_057097.2:p.Asp70His
NR_045620.2:n.642G>C