Canonical Allele Identifier: CA992511418
Gene: NDUFS7 HGNC NCBI

Linked Data

gnomAD v3: 19-1389924-G-T
gnomAD v4: 19-1389924-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1389924G>T , CM000681.2:g.1389924G>T GRCh38
NC_000019.9:g.1389923G>T , CM000681.1:g.1389923G>T GRCh37
NC_000019.8:g.1340923G>T NCBI36
NG_008283.1:g.11041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.229-947G>T MANE Select ENSP00000233627.9:n.229-947G>T
ENST00000233627.13:c.229-947G>T ENSP00000233627.9:n.229-947G>T
ENST00000313408.11:c.229-947G>T ENSP00000364262.5:n.229-947G>T
ENST00000414651.3:c.319-947G>T ENSP00000406630.2:n.319-947G>T
ENST00000436115.6:n.1237G>T
ENST00000534853.5:c.*23-947G>T ENSP00000442822.1:n.*23-947G>T
ENST00000535382.1:n.481-947G>T
ENST00000538523.5:n.285-947G>T
ENST00000538662.5:n.256-947G>T
ENST00000538929.5:n.319-947G>T
ENST00000539480.5:c.229-947G>T ENSP00000443273.1:n.229-947G>T
ENST00000540530.5:n.220-947G>T
ENST00000543289.5:n.719-947G>T
ENST00000545446.5:n.520-947G>T
ENST00000546172.7:c.*225-947G>T ENSP00000467094.1:n.*225-947G>T
ENST00000546283.5:c.229-947G>T ENSP00000440348.1:n.229-947G>T
ENST00000618074.4:c.229-947G>T ENSP00000477895.1:n.229-947G>T
ENST00000620479.4:c.229-947G>T ENSP00000480984.1:n.229-947G>T
ENST00000622587.4:n.225-947G>T
NM_024407.4:c.229-947G>T NP_077718.3:n.229-947G>T
XM_005259556.3:c.229-947G>T XP_005259613.2:n.229-947G>T
NM_001363602.1:c.229-947G>T NP_001350531.1:n.229-947G>T
XM_024451499.1:c.250-947G>T XP_024307267.1:n.250-947G>T
NM_024407.5:c.229-947G>T MANE Select NP_077718.3:n.229-947G>T
NM_001363602.2:c.229-947G>T NP_001350531.1:n.229-947G>T