Canonical Allele Identifier: CA359719126

Gene: NDUFS4

Linked Data

• dbSNP Id: rs2112521831
• gnomAD v4: 5-53658558-C-T
• COSMIC: COSM3616982
• MyVariant Identifiers: chr5:g.52954388C>T (hg19) ; chr5:g.53658558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658558C>T , CM000667.2:g.53658558C>T	GRCh38
NC_000005.9:g.52954388C>T , CM000667.1:g.52954388C>T	GRCh37
NC_000005.8:g.52990145C>T	NCBI36
NG_008200.1:g.102924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.358C>T MANE Select	ENSP00000296684.5:p.Pro120Ser
ENST00000296684.9:c.358C>T	ENSP00000296684.5:p.Pro120Ser
ENST00000502423.5:c.*225C>T	ENSP00000422177.1:n.*225C>T
ENST00000506765.1:c.338+12153C>T	ENSP00000424570.1:n.338+12153C>T
ENST00000506974.5:c.*134C>T	ENSP00000425967.1:n.*134C>T
ENST00000507026.5:c.*332C>T	ENSP00000424993.1:n.*332C>T
ENST00000509443.1:n.219C>T
NM_002495.2:c.358C>T	NP_002486.1:p.Pro120Ser
XM_005248525.3:c.350+12153C>T	XP_005248582.1:n.350+12153C>T
XM_011543415.1:c.184C>T	XP_011541717.1:p.Pro62Ser
NM_001318051.1:c.350+12153C>T	NP_001304980.1:n.350+12153C>T
NM_002495.3:c.358C>T	NP_002486.1:p.Pro120Ser
NR_134473.1:n.560C>T
NR_134474.1:n.477C>T
NR_134475.1:n.512C>T
NM_002495.4:c.358C>T MANE Select	NP_002486.1:p.Pro120Ser
NM_001318051.2:c.350+12153C>T	NP_001304980.1:n.350+12153C>T
NR_134473.2:n.554C>T
NR_134474.2:n.471C>T
NR_134475.2:n.506C>T