Canonical Allele Identifier: CA359719157

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954402G>T (hg19) ; chr5:g.53658572G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658572G>T , CM000667.2:g.53658572G>T	GRCh38
NC_000005.9:g.52954402G>T , CM000667.1:g.52954402G>T	GRCh37
NC_000005.8:g.52990159G>T	NCBI36
NG_008200.1:g.102938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.372G>T MANE Select	ENSP00000296684.5:p.Met124Ile
ENST00000296684.9:c.372G>T	ENSP00000296684.5:p.Met124Ile
ENST00000502423.5:c.*239G>T	ENSP00000422177.1:n.*239G>T
ENST00000506765.1:c.338+12167G>T	ENSP00000424570.1:n.338+12167G>T
ENST00000506974.5:c.*148G>T	ENSP00000425967.1:n.*148G>T
ENST00000507026.5:c.*346G>T	ENSP00000424993.1:n.*346G>T
ENST00000509443.1:n.233G>T
NM_002495.2:c.372G>T	NP_002486.1:p.Met124Ile
XM_005248525.3:c.350+12167G>T	XP_005248582.1:n.350+12167G>T
XM_011543415.1:c.198G>T	XP_011541717.1:p.Met66Ile
NM_001318051.1:c.350+12167G>T	NP_001304980.1:n.350+12167G>T
NM_002495.3:c.372G>T	NP_002486.1:p.Met124Ile
NR_134473.1:n.574G>T
NR_134474.1:n.491G>T
NR_134475.1:n.526G>T
NM_002495.4:c.372G>T MANE Select	NP_002486.1:p.Met124Ile
NM_001318051.2:c.350+12167G>T	NP_001304980.1:n.350+12167G>T
NR_134473.2:n.568G>T
NR_134474.2:n.485G>T
NR_134475.2:n.520G>T