Canonical Allele Identifier: CA359719554

Gene: NDUFS4

Linked Data

• dbSNP Id: rs140575484
• gnomAD v2: 5-52942072-A-C
• gnomAD v3: 5-53646242-A-C
• gnomAD v4: 5-53646242-A-C
• MyVariant Identifiers: chr5:g.52942072A>C (hg19) ; chr5:g.53646242A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646242A>C , CM000667.2:g.53646242A>C	GRCh38
NC_000005.9:g.52942072A>C , CM000667.1:g.52942072A>C	GRCh37
NC_000005.8:g.52977829A>C	NCBI36
NG_008200.1:g.90608A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.187A>C MANE Select	ENSP00000296684.5:p.Thr63Pro
ENST00000296684.9:c.187A>C	ENSP00000296684.5:p.Thr63Pro
ENST00000502423.5:c.*54A>C	ENSP00000422177.1:n.*54A>C
ENST00000506765.1:c.175A>C	ENSP00000424570.1:p.Thr59Pro
ENST00000506974.5:c.359A>C	ENSP00000425967.1:p.Tyr120Ser
ENST00000507026.5:c.*161A>C	ENSP00000424993.1:n.*161A>C
ENST00000509443.1:n.48A>C
NM_002495.2:c.187A>C	NP_002486.1:p.Thr63Pro
XM_005248525.3:c.187A>C	XP_005248582.1:p.Thr63Pro
XM_011543415.1:c.13A>C	XP_011541717.1:p.Thr5Pro
NM_001318051.1:c.187A>C	NP_001304980.1:p.Thr63Pro
NM_002495.3:c.187A>C	NP_002486.1:p.Thr63Pro
NR_134473.1:n.389A>C
NR_134474.1:n.306A>C
NR_134475.1:n.341A>C
NM_002495.4:c.187A>C MANE Select	NP_002486.1:p.Thr63Pro
NM_001318051.2:c.187A>C	NP_001304980.1:p.Thr63Pro
NR_134473.2:n.383A>C
NR_134474.2:n.300A>C
NR_134475.2:n.335A>C