Canonical Allele Identifier: CA504895190

Gene: NDUFS7

Linked Data

• ClinVar Variation Id: 2648919
• ClinVar RCV Id: RCV003421706
• dbSNP Id: rs1252911731
• gnomAD v4: 19-1391044-T-G
• MyVariant Identifiers: chr19:g.1391043T>G (hg19) ; chr19:g.1391044T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391044T>G , CM000681.2:g.1391044T>G	GRCh38
NC_000019.9:g.1391043T>G , CM000681.1:g.1391043T>G	GRCh37
NC_000019.8:g.1342043T>G	NCBI36
NG_008283.1:g.12161T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.402T>G MANE Select	ENSP00000233627.9:p.Leu134=
ENST00000233627.13:c.402T>G	ENSP00000233627.9:p.Leu134=
ENST00000313408.11:c.402T>G	ENSP00000364262.5:p.Leu134=
ENST00000414651.3:c.492T>G	ENSP00000406630.2:p.Leu164=
ENST00000436115.6:n.2357T>G
ENST00000534853.5:c.*196T>G	ENSP00000442822.1:n.*196T>G
ENST00000535382.1:n.654T>G
ENST00000538523.5:n.458T>G
ENST00000538662.5:n.429T>G
ENST00000538929.5:n.492T>G
ENST00000539480.5:c.402T>G	ENSP00000443273.1:p.Leu134=
ENST00000540530.5:n.393T>G
ENST00000543289.5:n.892T>G
ENST00000545446.5:n.693T>G
ENST00000546172.7:c.*398T>G	ENSP00000467094.1:n.*398T>G
ENST00000546283.5:c.402T>G	ENSP00000440348.1:p.Leu134=
ENST00000618074.4:c.402T>G	ENSP00000477895.1:p.Leu134=
ENST00000620479.4:c.402T>G	ENSP00000480984.1:p.Leu134=
ENST00000622587.4:n.398T>G
NM_024407.4:c.402T>G	NP_077718.3:p.Leu134=
XM_005259556.3:c.402T>G	XP_005259613.2:p.Leu134=
NM_001363602.1:c.402T>G	NP_001350531.1:p.Leu134=
XM_024451499.1:c.423T>G	XP_024307267.1:p.Leu141=
NM_024407.5:c.402T>G MANE Select	NP_077718.3:p.Leu134=
NM_001363602.2:c.402T>G	NP_001350531.1:p.Leu134=