Canonical Allele Identifier: CA292511
Gene: NDUFS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 138497
dbSNP Id: rs140236960
gnomAD v2: 19-1388862-C-T
gnomAD v3: 19-1388863-C-T
gnomAD v4: 19-1388863-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1388863C>T , CM000681.2:g.1388863C>T GRCh38
NC_000019.9:g.1388862C>T , CM000681.1:g.1388862C>T GRCh37
NC_000019.8:g.1339862C>T NCBI36
NG_008283.1:g.9980C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.153C>T MANE Select ENSP00000233627.9:p.Ala51=
ENST00000233627.13:c.153C>T ENSP00000233627.9:p.Ala51=
ENST00000313408.11:c.153C>T ENSP00000364262.5:p.Ala51=
ENST00000414651.3:c.243C>T ENSP00000406630.2:p.Ala81=
ENST00000436115.6:n.176C>T
ENST00000534853.5:c.148C>T ENSP00000442822.1:p.Arg50Cys
ENST00000535382.1:n.405C>T
ENST00000538523.5:n.209C>T
ENST00000538662.5:n.180C>T
ENST00000538929.5:n.243C>T
ENST00000539480.5:c.153C>T ENSP00000443273.1:p.Ala51=
ENST00000540530.5:n.144C>T
ENST00000543289.5:n.643C>T
ENST00000545446.5:n.444C>T
ENST00000546172.7:c.*149C>T ENSP00000467094.1:n.*149C>T
ENST00000546283.5:c.153C>T ENSP00000440348.1:p.Ala51=
ENST00000618074.4:c.153C>T ENSP00000477895.1:p.Ala51=
ENST00000620479.4:c.153C>T ENSP00000480984.1:p.Ala51=
ENST00000622587.4:n.149C>T
NM_024407.4:c.153C>T NP_077718.3:p.Ala51=
XM_005259556.3:c.153C>T XP_005259613.2:p.Ala51=
NM_001363602.1:c.153C>T NP_001350531.1:p.Ala51=
XM_017026768.2:c.153C>T XP_016882257.2:p.Ala51=
XM_024451499.1:c.174C>T XP_024307267.1:p.Ala58=
NM_024407.5:c.153C>T MANE Select NP_077718.3:p.Ala51=
NM_001363602.2:c.153C>T NP_001350531.1:p.Ala51=