Canonical Allele Identifier: CA6146593
Gene: NDUFS8 HGNC NCBI

Linked Data

ClinVar Variation Id: 305776
ClinVar RCV Id: RCV000346629 RCV000370635 RCV000399461 RCV001109242 RCV001660604
dbSNP Id: rs61329983
ExAC: 11:67804100 A / G
gnomAD v2: 11-67804100-A-G
gnomAD v3: 11-68036633-A-G
gnomAD v4: 11-68036633-A-G
MyVariant Identifiers: chr11:g.67804100A>G (hg19) chr11:g.68036633A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68036633A>G , CM000673.2:g.68036633A>G GRCh38
NC_000011.9:g.67804100A>G , CM000673.1:g.67804100A>G GRCh37
NC_000011.8:g.67560676A>G NCBI36
NG_007878.1:g.2618A>G , LRG_115:g.2618A>G
NG_017040.1:g.11017A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.*40A>G MANE Select ENSP00000315774.5:n.*40A>G
ENST00000313468.9:c.*40A>G ENSP00000315774.5:n.*40A>G
ENST00000524810.5:c.605A>G
ENST00000528492.1:c.*40A>G ENSP00000432848.1:n.*40A>G
ENST00000531282.1:n.525A>G
NM_002496.3:c.*40A>G NP_002487.1:n.*40A>G
XM_005274013.1:c.*40A>G XP_005274070.1:n.*40A>G
XM_005274014.1:c.*40A>G XP_005274071.1:n.*40A>G
XM_005274015.1:c.*40A>G XP_005274072.1:n.*40A>G
XM_011545053.1:c.*40A>G XP_011543355.1:n.*40A>G
NM_002496.4:c.*40A>G MANE Select NP_002487.1:n.*40A>G
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