Canonical Allele Identifier: CA3264126

Gene: NDUFS4

Linked Data

• dbSNP Id: rs747365869
• ExAC: 5:52856512 CAG / C
• gnomAD v2: 5-52856512-CAG-C
• gnomAD v3: 5-53560682-CAG-C
• MyVariant Identifiers: chr5:g.52856513_52856514del (hg19) ; chr5:g.53560683_53560684del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560683_53560684del , CM000667.2:g.53560683_53560684del	GRCh38
NC_000005.9:g.52856513_52856514del , CM000667.1:g.52856513_52856514del	GRCh37
NC_000005.8:g.52892270_52892271del	NCBI36
NG_008200.1:g.5049_5050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.21_22del MANE Select	ENSP00000296684.5:p.Val8GlyfsTer?
ENST00000296684.9:c.21_22del	ENSP00000296684.5:p.Val8GlyfsTer?
ENST00000502423.5:c.21_22del	ENSP00000422177.1:p.Val8GlyfsTer?
ENST00000506765.1:c.9_10del	ENSP00000424570.1:p.Val4GlyfsTer?
ENST00000506974.5:c.21_22del	ENSP00000425967.1:p.Val8GlyfsTer?
ENST00000507026.5:c.21_22del	ENSP00000424993.1:p.Val8GlyfsTer?
NM_002495.2:c.21_22del	NP_002486.1:p.Val8GlyfsTer?
XM_005248525.3:c.21_22del	XP_005248582.1:p.Val8GlyfsTer?
XM_011543414.1:c.21_22del	XP_011541716.1:p.Val8GlyfsTer?
NM_001318051.1:c.21_22del	NP_001304980.1:p.Val8GlyfsTer?
NM_002495.3:c.21_22del	NP_002486.1:p.Val8GlyfsTer?
NR_134473.1:n.51_52del
NR_134474.1:n.51_52del
NR_134475.1:n.51_52del
XM_017009491.1:c.21_22del	XP_016864980.1:p.Val8GlyfsTer?
NM_002495.4:c.21_22del MANE Select	NP_002486.1:p.Val8GlyfsTer?
NM_001318051.2:c.21_22del	NP_001304980.1:p.Val8GlyfsTer?
NR_134473.2:n.45_46del
NR_134474.2:n.45_46del
NR_134475.2:n.45_46del