Canonical Allele Identifier: CA3264267

Gene: NDUFS4

Linked Data

• dbSNP Id: rs146922900
• ExAC: 5:52942213 C / T
• gnomAD v2: 5-52942213-C-T
• gnomAD v3: 5-53646383-C-T
• gnomAD v4: 5-53646383-C-T
• MyVariant Identifiers: chr5:g.52942213C>T (hg19) ; chr5:g.53646383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646383C>T , CM000667.2:g.53646383C>T	GRCh38
NC_000005.9:g.52942213C>T , CM000667.1:g.52942213C>T	GRCh37
NC_000005.8:g.52977970C>T	NCBI36
NG_008200.1:g.90749C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.328C>T MANE Select	ENSP00000296684.5:p.Pro110Ser
ENST00000296684.9:c.328C>T	ENSP00000296684.5:p.Pro110Ser
ENST00000502423.5:c.*195C>T	ENSP00000422177.1:n.*195C>T
ENST00000506765.1:c.316C>T	ENSP00000424570.1:p.Pro106Ser
ENST00000506974.5:c.*104C>T	ENSP00000425967.1:n.*104C>T
ENST00000507026.5:c.*302C>T	ENSP00000424993.1:n.*302C>T
ENST00000509443.1:n.189C>T
NM_002495.2:c.328C>T	NP_002486.1:p.Pro110Ser
XM_005248525.3:c.328C>T	XP_005248582.1:p.Pro110Ser
XM_011543415.1:c.154C>T	XP_011541717.1:p.Pro52Ser
NM_001318051.1:c.328C>T	NP_001304980.1:p.Pro110Ser
NM_002495.3:c.328C>T	NP_002486.1:p.Pro110Ser
NR_134473.1:n.530C>T
NR_134474.1:n.447C>T
NR_134475.1:n.482C>T
NM_002495.4:c.328C>T MANE Select	NP_002486.1:p.Pro110Ser
NM_001318051.2:c.328C>T	NP_001304980.1:p.Pro110Ser
NR_134473.2:n.524C>T
NR_134474.2:n.441C>T
NR_134475.2:n.476C>T