Canonical Allele Identifier: CA1617317
Community Standard Title: NM_144736.5(NDUFAF7):c.862C>T (p.Arg288Cys)
Gene: NDUFAF7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37246121C>T , CM000664.2:g.37246121C>T GRCh38
NC_000002.11:g.37473264C>T , CM000664.1:g.37473264C>T GRCh37
NC_000002.10:g.37326768C>T NCBI36
NG_053078.1:g.19491C>T

Transcript Alleles

HGVS Amino-acid Change
NM_144736.5:c.862C>T MANE Select NP_653337.1:p.Arg288Cys
ENST00000002125.9:c.862C>T MANE Select ENSP00000002125.4:p.Arg288Cys
NM_001083946.1:c.568C>T NP_001077415.1:p.Arg190Cys
NM_001083946.2:c.568C>T NP_001077415.1:p.Arg190Cys
NM_001350024.1:c.862C>T NP_001336953.1:p.Arg288Cys
NM_001350024.2:c.862C>T NP_001336953.1:p.Arg288Cys
NM_001350025.1:c.781C>T NP_001336954.1:p.Arg261Cys
NM_001350025.2:c.781C>T NP_001336954.1:p.Arg261Cys
NM_001350027.1:c.649C>T NP_001336956.1:p.Arg217Cys
NM_001350027.2:c.649C>T NP_001336956.1:p.Arg217Cys
NM_144736.4:c.862C>T NP_653337.1:p.Arg288Cys
NR_146401.1:n.783C>T
NR_146401.2:n.756C>T
NR_146402.1:n.937C>T
NR_146402.2:n.910C>T
NR_146403.1:n.1570C>T
NR_146403.2:n.1543C>T
NR_146404.1:n.702C>T
NR_146404.2:n.675C>T
NR_146405.1:n.724C>T
NR_146405.2:n.697C>T
NR_146406.1:n.1570C>T
NR_146406.2:n.1543C>T
NR_146407.1:n.878C>T
NR_146407.2:n.851C>T
NR_146408.1:n.937C>T
NR_146408.2:n.910C>T
NR_146409.1:n.937C>T
NR_146409.2:n.910C>T
NR_146409.3:n.910C>T
NR_146410.1:n.692C>T
NR_146410.2:n.665C>T
ENST00000002125.8:c.862C>T ENSP00000002125.4:p.Arg288Cys
ENST00000336237.10:c.568C>T ENSP00000337431.6:p.Arg190Cys
ENST00000419278.2:n.123C>T
ENST00000431821.5:c.625C>T ENSP00000399207.1:p.Arg209Cys
ENST00000439218.5:c.736C>T ENSP00000394436.1:p.Arg246Cys
ENST00000455230.5:c.*262C>T ENSP00000416594.1:n.*262C>T
ENST00000474154.5:n.1700C>T
ENST00000474257.5:n.936C>T
ENST00000483999.5:n.637C>T
XM_005264410.1:c.736C>T XP_005264467.1:p.Arg246Cys
XM_005264410.2:c.736C>T XP_005264467.1:p.Arg246Cys
XM_005264411.1:c.649C>T XP_005264468.1:p.Arg217Cys
XM_011532956.1:c.307C>T XP_011531258.1:p.Arg103Cys
XM_024452977.1:c.523C>T XP_024308745.1:p.Arg175Cys
XR_002959313.1:n.920C>T