Canonical Allele Identifier: CA504715475
Gene: NDUFS7 HGNC NCBI

Linked Data

gnomAD v4: 19-1388935-C-G
MyVariant Identifiers: chr19:g.1388934C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1388935C>G , CM000681.2:g.1388935C>G GRCh38
NC_000019.9:g.1388934C>G , CM000681.1:g.1388934C>G GRCh37
NC_000019.8:g.1339934C>G NCBI36
NG_008283.1:g.10052C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.225C>G MANE Select ENSP00000233627.9:p.Arg75=
ENST00000233627.13:c.225C>G ENSP00000233627.9:p.Arg75=
ENST00000313408.11:c.225C>G ENSP00000364262.5:p.Arg75=
ENST00000414651.3:c.315C>G ENSP00000406630.2:p.Arg105=
ENST00000436115.6:n.248C>G
ENST00000534853.5:c.*19C>G ENSP00000442822.1:n.*19C>G
ENST00000535382.1:n.477C>G
ENST00000538523.5:n.281C>G
ENST00000538662.5:n.252C>G
ENST00000538929.5:n.315C>G
ENST00000539480.5:c.225C>G ENSP00000443273.1:p.Arg75=
ENST00000540530.5:n.216C>G
ENST00000543289.5:n.715C>G
ENST00000545446.5:n.516C>G
ENST00000546172.7:c.*221C>G ENSP00000467094.1:n.*221C>G
ENST00000546283.5:c.225C>G ENSP00000440348.1:p.Arg75=
ENST00000618074.4:c.225C>G ENSP00000477895.1:p.Arg75=
ENST00000620479.4:c.225C>G ENSP00000480984.1:p.Arg75=
ENST00000622587.4:n.221C>G
NM_024407.4:c.225C>G NP_077718.3:p.Arg75=
XM_005259556.3:c.225C>G XP_005259613.2:p.Arg75=
NM_001363602.1:c.225C>G NP_001350531.1:p.Arg75=
XM_017026768.2:c.225C>G XP_016882257.2:p.Arg75=
XM_024451499.1:c.246C>G XP_024307267.1:p.Arg82=
NM_024407.5:c.225C>G MANE Select NP_077718.3:p.Arg75=
NM_001363602.2:c.225C>G NP_001350531.1:p.Arg75=