Canonical Allele Identifier: CA3264243

Gene: NDUFS4

Linked Data

• dbSNP Id: rs777667537
• ExAC: 5:52942084 G / A
• gnomAD v2: 5-52942084-G-A
• gnomAD v4: 5-53646254-G-A
• MyVariant Identifiers: chr5:g.52942084G>A (hg19) ; chr5:g.53646254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646254G>A , CM000667.2:g.53646254G>A	GRCh38
NC_000005.9:g.52942084G>A , CM000667.1:g.52942084G>A	GRCh37
NC_000005.8:g.52977841G>A	NCBI36
NG_008200.1:g.90620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.199G>A MANE Select	ENSP00000296684.5:p.Val67Ile
ENST00000296684.9:c.199G>A	ENSP00000296684.5:p.Val67Ile
ENST00000502423.5:c.*66G>A	ENSP00000422177.1:n.*66G>A
ENST00000506765.1:c.187G>A	ENSP00000424570.1:p.Val63Ile
ENST00000506974.5:c.371G>A	ENSP00000425967.1:p.Ser124Asn
ENST00000507026.5:c.*173G>A	ENSP00000424993.1:n.*173G>A
ENST00000509443.1:n.60G>A
NM_002495.2:c.199G>A	NP_002486.1:p.Val67Ile
XM_005248525.3:c.199G>A	XP_005248582.1:p.Val67Ile
XM_011543415.1:c.25G>A	XP_011541717.1:p.Val9Ile
NM_001318051.1:c.199G>A	NP_001304980.1:p.Val67Ile
NM_002495.3:c.199G>A	NP_002486.1:p.Val67Ile
NR_134473.1:n.401G>A
NR_134474.1:n.318G>A
NR_134475.1:n.353G>A
NM_002495.4:c.199G>A MANE Select	NP_002486.1:p.Val67Ile
NM_001318051.2:c.199G>A	NP_001304980.1:p.Val67Ile
NR_134473.2:n.395G>A
NR_134474.2:n.312G>A
NR_134475.2:n.347G>A