Canonical Allele Identifier: CA402985293

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1289530034
• gnomAD v2: 19-1391039-C-A
• gnomAD v4: 19-1391040-C-A
• MyVariant Identifiers: chr19:g.1391039C>A (hg19) ; chr19:g.1391040C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391040C>A , CM000681.2:g.1391040C>A	GRCh38
NC_000019.9:g.1391039C>A , CM000681.1:g.1391039C>A	GRCh37
NC_000019.8:g.1342039C>A	NCBI36
NG_008283.1:g.12157C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.398C>A MANE Select	ENSP00000233627.9:p.Ala133Glu
ENST00000233627.13:c.398C>A	ENSP00000233627.9:p.Ala133Glu
ENST00000313408.11:c.398C>A	ENSP00000364262.5:p.Ala133Glu
ENST00000414651.3:c.488C>A	ENSP00000406630.2:p.Ala163Glu
ENST00000436115.6:n.2353C>A
ENST00000534853.5:c.*192C>A	ENSP00000442822.1:n.*192C>A
ENST00000535382.1:n.650C>A
ENST00000538523.5:n.454C>A
ENST00000538662.5:n.425C>A
ENST00000538929.5:n.488C>A
ENST00000539480.5:c.398C>A	ENSP00000443273.1:p.Ala133Glu
ENST00000540530.5:n.389C>A
ENST00000543289.5:n.888C>A
ENST00000545446.5:n.689C>A
ENST00000546172.7:c.*394C>A	ENSP00000467094.1:n.*394C>A
ENST00000546283.5:c.398C>A	ENSP00000440348.1:p.Ala133Glu
ENST00000618074.4:c.398C>A	ENSP00000477895.1:p.Ala133Glu
ENST00000620479.4:c.398C>A	ENSP00000480984.1:p.Ala133Glu
ENST00000622587.4:n.394C>A
NM_024407.4:c.398C>A	NP_077718.3:p.Ala133Glu
XM_005259556.3:c.398C>A	XP_005259613.2:p.Ala133Glu
NM_001363602.1:c.398C>A	NP_001350531.1:p.Ala133Glu
XM_024451499.1:c.419C>A	XP_024307267.1:p.Ala140Glu
NM_024407.5:c.398C>A MANE Select	NP_077718.3:p.Ala133Glu
NM_001363602.2:c.398C>A	NP_001350531.1:p.Ala133Glu