Canonical Allele Identifier: CA402984980

Gene: NDUFS7

Linked Data

• MyVariant Identifiers: chr19:g.1390990T>A (hg19) ; chr19:g.1390991T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1390991T>A , CM000681.2:g.1390991T>A	GRCh38
NC_000019.9:g.1390990T>A , CM000681.1:g.1390990T>A	GRCh37
NC_000019.8:g.1341990T>A	NCBI36
NG_008283.1:g.12108T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.349T>A MANE Select	ENSP00000233627.9:p.Ser117Thr
ENST00000233627.13:c.349T>A	ENSP00000233627.9:p.Ser117Thr
ENST00000313408.11:c.349T>A	ENSP00000364262.5:p.Ser117Thr
ENST00000414651.3:c.439T>A	ENSP00000406630.2:p.Ser147Thr
ENST00000436115.6:n.2304T>A
ENST00000534853.5:c.*143T>A	ENSP00000442822.1:n.*143T>A
ENST00000535382.1:n.601T>A
ENST00000538523.5:n.405T>A
ENST00000538662.5:n.376T>A
ENST00000538929.5:n.439T>A
ENST00000539480.5:c.349T>A	ENSP00000443273.1:p.Ser117Thr
ENST00000540530.5:n.340T>A
ENST00000543289.5:n.839T>A
ENST00000545446.5:n.640T>A
ENST00000546172.7:c.*345T>A	ENSP00000467094.1:n.*345T>A
ENST00000546283.5:c.349T>A	ENSP00000440348.1:p.Ser117Thr
ENST00000618074.4:c.349T>A	ENSP00000477895.1:p.Ser117Thr
ENST00000620479.4:c.349T>A	ENSP00000480984.1:p.Ser117Thr
ENST00000622587.4:n.345T>A
NM_024407.4:c.349T>A	NP_077718.3:p.Ser117Thr
XM_005259556.3:c.349T>A	XP_005259613.2:p.Ser117Thr
NM_001363602.1:c.349T>A	NP_001350531.1:p.Ser117Thr
XM_024451499.1:c.370T>A	XP_024307267.1:p.Ser124Thr
NM_024407.5:c.349T>A MANE Select	NP_077718.3:p.Ser117Thr
NM_001363602.2:c.349T>A	NP_001350531.1:p.Ser117Thr