Canonical Allele Identifier: CA402984903

Gene: NDUFS7

Linked Data

• MyVariant Identifiers: chr19:g.1390979G>A (hg19) ; chr19:g.1390980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1390980G>A , CM000681.2:g.1390980G>A	GRCh38
NC_000019.9:g.1390979G>A , CM000681.1:g.1390979G>A	GRCh37
NC_000019.8:g.1341979G>A	NCBI36
NG_008283.1:g.12097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.338G>A MANE Select	ENSP00000233627.9:p.Ser113Asn
ENST00000233627.13:c.338G>A	ENSP00000233627.9:p.Ser113Asn
ENST00000313408.11:c.338G>A	ENSP00000364262.5:p.Ser113Asn
ENST00000414651.3:c.428G>A	ENSP00000406630.2:p.Ser143Asn
ENST00000436115.6:n.2293G>A
ENST00000534853.5:c.*132G>A	ENSP00000442822.1:n.*132G>A
ENST00000535382.1:n.590G>A
ENST00000538523.5:n.394G>A
ENST00000538662.5:n.365G>A
ENST00000538929.5:n.428G>A
ENST00000539480.5:c.338G>A	ENSP00000443273.1:p.Ser113Asn
ENST00000540530.5:n.329G>A
ENST00000543289.5:n.828G>A
ENST00000545446.5:n.629G>A
ENST00000546172.7:c.*334G>A	ENSP00000467094.1:n.*334G>A
ENST00000546283.5:c.338G>A	ENSP00000440348.1:p.Ser113Asn
ENST00000618074.4:c.338G>A	ENSP00000477895.1:p.Ser113Asn
ENST00000620479.4:c.338G>A	ENSP00000480984.1:p.Ser113Asn
ENST00000622587.4:n.334G>A
NM_024407.4:c.338G>A	NP_077718.3:p.Ser113Asn
XM_005259556.3:c.338G>A	XP_005259613.2:p.Ser113Asn
NM_001363602.1:c.338G>A	NP_001350531.1:p.Ser113Asn
XM_024451499.1:c.359G>A	XP_024307267.1:p.Ser120Asn
NM_024407.5:c.338G>A MANE Select	NP_077718.3:p.Ser113Asn
NM_001363602.2:c.338G>A	NP_001350531.1:p.Ser113Asn