Canonical Allele Identifier: CA119136949

Gene: NDUFS4

Linked Data

• dbSNP Id: rs956165237
• gnomAD v2: 5-52954651-C-T
• gnomAD v3: 5-53658821-C-T
• gnomAD v4: 5-53658821-C-T
• MyVariant Identifiers: chr5:g.52954651C>T (hg19) ; chr5:g.53658821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658821C>T , CM000667.2:g.53658821C>T	GRCh38
NC_000005.9:g.52954651C>T , CM000667.1:g.52954651C>T	GRCh37
NC_000005.8:g.52990408C>T	NCBI36
NG_008200.1:g.103187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+197C>T MANE Select	ENSP00000296684.5:n.424+197C>T
ENST00000296684.9:c.424+197C>T	ENSP00000296684.5:n.424+197C>T
ENST00000502423.5:c.*291+197C>T	ENSP00000422177.1:n.*291+197C>T
ENST00000506765.1:c.338+12416C>T	ENSP00000424570.1:n.338+12416C>T
ENST00000506974.5:c.*200+197C>T	ENSP00000425967.1:n.*200+197C>T
ENST00000507026.5:c.*398+197C>T	ENSP00000424993.1:n.*398+197C>T
NM_002495.2:c.424+197C>T	NP_002486.1:n.424+197C>T
XM_005248525.3:c.350+12416C>T	XP_005248582.1:n.350+12416C>T
XM_011543415.1:c.250+197C>T	XP_011541717.1:n.250+197C>T
NM_001318051.1:c.350+12416C>T	NP_001304980.1:n.350+12416C>T
NM_002495.3:c.424+197C>T	NP_002486.1:n.424+197C>T
NR_134473.1:n.626+197C>T
NR_134474.1:n.543+197C>T
NR_134475.1:n.578+197C>T
NM_002495.4:c.424+197C>T MANE Select	NP_002486.1:n.424+197C>T
NM_001318051.2:c.350+12416C>T	NP_001304980.1:n.350+12416C>T
NR_134473.2:n.620+197C>T
NR_134474.2:n.537+197C>T
NR_134475.2:n.572+197C>T