Canonical Allele Identifier: CA812050716

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1172315690
• gnomAD v4: 5-53646186-G-T
• MyVariant Identifiers: chr5:g.52942016G>T (hg19) ; chr5:g.53646186G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646186G>T , CM000667.2:g.53646186G>T	GRCh38
NC_000005.9:g.52942016G>T , CM000667.1:g.52942016G>T	GRCh37
NC_000005.8:g.52977773G>T	NCBI36
NG_008200.1:g.90552G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-47G>T MANE Select	ENSP00000296684.5:n.178-47G>T
ENST00000296684.9:c.178-47G>T	ENSP00000296684.5:n.178-47G>T
ENST00000502423.5:c.*45-47G>T	ENSP00000422177.1:n.*45-47G>T
ENST00000506765.1:c.166-47G>T	ENSP00000424570.1:n.166-47G>T
ENST00000506974.5:c.350-47G>T	ENSP00000425967.1:n.350-47G>T
ENST00000507026.5:c.*152-47G>T	ENSP00000424993.1:n.*152-47G>T
NM_002495.2:c.178-47G>T	NP_002486.1:n.178-47G>T
XM_005248525.3:c.178-47G>T	XP_005248582.1:n.178-47G>T
XM_011543415.1:c.4-47G>T	XP_011541717.1:n.4-47G>T
NM_001318051.1:c.178-47G>T	NP_001304980.1:n.178-47G>T
NM_002495.3:c.178-47G>T	NP_002486.1:n.178-47G>T
NR_134473.1:n.380-47G>T
NR_134474.1:n.297-47G>T
NR_134475.1:n.332-47G>T
NM_002495.4:c.178-47G>T MANE Select	NP_002486.1:n.178-47G>T
NM_001318051.2:c.178-47G>T	NP_001304980.1:n.178-47G>T
NR_134473.2:n.374-47G>T
NR_134474.2:n.291-47G>T
NR_134475.2:n.326-47G>T