Canonical Allele Identifier: CA559658032
Gene: NDUFS4 HGNC NCBI

Linked Data

dbSNP Id: rs1255185658
gnomAD v2: 5-52856474-G-A
gnomAD v3: 5-53560644-G-A
gnomAD v4: 5-53560644-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53560644G>A , CM000667.2:g.53560644G>A GRCh38
NC_000005.9:g.52856474G>A , CM000667.1:g.52856474G>A GRCh37
NC_000005.8:g.52892231G>A NCBI36
NG_008200.1:g.5010G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.-19G>A MANE Select ENSP00000296684.5:n.-19G>A
ENST00000296684.9:c.-19G>A ENSP00000296684.5:n.-19G>A
ENST00000502423.5:c.-19G>A ENSP00000422177.1:n.-19G>A
ENST00000507026.5:c.-19G>A ENSP00000424993.1:n.-19G>A
NM_002495.2:c.-19G>A NP_002486.1:n.-19G>A
XM_005248525.3:c.-19G>A XP_005248582.1:n.-19G>A
XM_011543414.1:c.-19G>A XP_011541716.1:n.-19G>A
NM_001318051.1:c.-19G>A NP_001304980.1:n.-19G>A
NM_002495.3:c.-19G>A NP_002486.1:n.-19G>A
NR_134473.1:n.12G>A
NR_134474.1:n.12G>A
NR_134475.1:n.12G>A
XM_017009491.1:c.-19G>A XP_016864980.1:n.-19G>A
NM_002495.4:c.-19G>A MANE Select NP_002486.1:n.-19G>A
NM_001318051.2:c.-19G>A NP_001304980.1:n.-19G>A
NR_134473.2:n.6G>A
NR_134474.2:n.6G>A
NR_134475.2:n.6G>A