Canonical Allele Identifier: CA359718956

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53560682-C-G
• MyVariant Identifiers: chr5:g.52856512C>G (hg19) ; chr5:g.53560682C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560682C>G , CM000667.2:g.53560682C>G	GRCh38
NC_000005.9:g.52856512C>G , CM000667.1:g.52856512C>G	GRCh37
NC_000005.8:g.52892269C>G	NCBI36
NG_008200.1:g.5048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.20C>G MANE Select	ENSP00000296684.5:p.Ser7Ter
ENST00000296684.9:c.20C>G	ENSP00000296684.5:p.Ser7Ter
ENST00000502423.5:c.20C>G	ENSP00000422177.1:p.Ser7Ter
ENST00000506765.1:c.8C>G	ENSP00000424570.1:p.Ser3Ter
ENST00000506974.5:c.20C>G	ENSP00000425967.1:p.Ser7Ter
ENST00000507026.5:c.20C>G	ENSP00000424993.1:p.Ser7Ter
NM_002495.2:c.20C>G	NP_002486.1:p.Ser7Ter
XM_005248525.3:c.20C>G	XP_005248582.1:p.Ser7Ter
XM_011543414.1:c.20C>G	XP_011541716.1:p.Ser7Ter
NM_001318051.1:c.20C>G	NP_001304980.1:p.Ser7Ter
NM_002495.3:c.20C>G	NP_002486.1:p.Ser7Ter
NR_134473.1:n.50C>G
NR_134474.1:n.50C>G
NR_134475.1:n.50C>G
XM_017009491.1:c.20C>G	XP_016864980.1:p.Ser7Ter
NM_002495.4:c.20C>G MANE Select	NP_002486.1:p.Ser7Ter
NM_001318051.2:c.20C>G	NP_001304980.1:p.Ser7Ter
NR_134473.2:n.44C>G
NR_134474.2:n.44C>G
NR_134475.2:n.44C>G