Canonical Allele Identifier: CA504895082

Gene: NDUFS7

Linked Data

• ClinVar Variation Id: 2648915
• ClinVar RCV Id: RCV003413506
• MyVariant Identifiers: chr19:g.1390989G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1390990G>A , CM000681.2:g.1390990G>A	GRCh38
NC_000019.9:g.1390989G>A , CM000681.1:g.1390989G>A	GRCh37
NC_000019.8:g.1341989G>A	NCBI36
NG_008283.1:g.12107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.348G>A MANE Select	ENSP00000233627.9:p.Gln116=
ENST00000233627.13:c.348G>A	ENSP00000233627.9:p.Gln116=
ENST00000313408.11:c.348G>A	ENSP00000364262.5:p.Gln116=
ENST00000414651.3:c.438G>A	ENSP00000406630.2:p.Gln146=
ENST00000436115.6:n.2303G>A
ENST00000534853.5:c.*142G>A	ENSP00000442822.1:n.*142G>A
ENST00000535382.1:n.600G>A
ENST00000538523.5:n.404G>A
ENST00000538662.5:n.375G>A
ENST00000538929.5:n.438G>A
ENST00000539480.5:c.348G>A	ENSP00000443273.1:p.Gln116=
ENST00000540530.5:n.339G>A
ENST00000543289.5:n.838G>A
ENST00000545446.5:n.639G>A
ENST00000546172.7:c.*344G>A	ENSP00000467094.1:n.*344G>A
ENST00000546283.5:c.348G>A	ENSP00000440348.1:p.Gln116=
ENST00000618074.4:c.348G>A	ENSP00000477895.1:p.Gln116=
ENST00000620479.4:c.348G>A	ENSP00000480984.1:p.Gln116=
ENST00000622587.4:n.344G>A
NM_024407.4:c.348G>A	NP_077718.3:p.Gln116=
XM_005259556.3:c.348G>A	XP_005259613.2:p.Gln116=
NM_001363602.1:c.348G>A	NP_001350531.1:p.Gln116=
XM_024451499.1:c.369G>A	XP_024307267.1:p.Gln123=
NM_024407.5:c.348G>A MANE Select	NP_077718.3:p.Gln116=
NM_001363602.2:c.348G>A	NP_001350531.1:p.Gln116=