Canonical Allele Identifier: CA2582637714
Gene: NDUFS7 HGNC NCBI

Linked Data

gnomAD v4: 19-1391195-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1391195C>G , CM000681.2:g.1391195C>G GRCh38
NC_000019.9:g.1391194C>G , CM000681.1:g.1391194C>G GRCh37
NC_000019.8:g.1342194C>G NCBI36
NG_008283.1:g.12312C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.455+30C>G MANE Select ENSP00000233627.9:n.455+30C>G
ENST00000233627.13:c.455+30C>G ENSP00000233627.9:n.455+30C>G
ENST00000313408.11:c.455+30C>G ENSP00000364262.5:n.455+30C>G
ENST00000414651.3:c.545+30C>G ENSP00000406630.2:n.545+30C>G
ENST00000436115.6:n.2410+30C>G
ENST00000534853.5:c.*249+30C>G ENSP00000442822.1:n.*249+30C>G
ENST00000535382.1:n.707+30C>G
ENST00000538523.5:n.511+30C>G
ENST00000538662.5:n.550+30C>G
ENST00000538929.5:n.545+30C>G
ENST00000539480.5:c.455+30C>G ENSP00000443273.1:n.455+30C>G
ENST00000540530.5:n.446+30C>G
ENST00000543289.5:n.1013+30C>G
ENST00000545446.5:n.746+30C>G
ENST00000546172.7:c.*451+30C>G ENSP00000467094.1:n.*451+30C>G
ENST00000546283.5:c.455+30C>G ENSP00000440348.1:n.455+30C>G
ENST00000618074.4:c.462+30C>G ENSP00000477895.1:n.462+30C>G
ENST00000620479.4:c.459+30C>G ENSP00000480984.1:n.459+30C>G
ENST00000622587.4:n.519+30C>G
NM_024407.4:c.455+30C>G NP_077718.3:n.455+30C>G
XM_005259556.3:c.455+30C>G XP_005259613.2:n.455+30C>G
NM_001363602.1:c.455+30C>G NP_001350531.1:n.455+30C>G
XM_024451499.1:c.476+30C>G XP_024307267.1:n.476+30C>G
NM_024407.5:c.455+30C>G MANE Select NP_077718.3:n.455+30C>G
NM_001363602.2:c.455+30C>G NP_001350531.1:n.455+30C>G