Canonical Allele Identifier: CA600238530

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1316523588
• gnomAD v2: 11-67804085-C-CT
• gnomAD v4: 11-68036618-C-CT
• MyVariant Identifiers: chr11:g.67804085_67804086insT (hg19) ; chr11:g.68036618_68036619insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036619dup , CM000673.2:g.68036619dup	GRCh38
NC_000011.9:g.67804086dup , CM000673.1:g.67804086dup	GRCh37
NC_000011.8:g.67560662dup	NCBI36
NG_007878.1:g.2604dup , LRG_115:g.2604dup
NG_017040.1:g.11003dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.*26dup MANE Select	ENSP00000315774.5:n.*26dup
ENST00000313468.9:c.*26dup	ENSP00000315774.5:n.*26dup
ENST00000524810.5:c.591dup
ENST00000528492.1:c.*26dup	ENSP00000432848.1:n.*26dup
ENST00000531282.1:n.511dup
NM_002496.3:c.*26dup	NP_002487.1:n.*26dup
XM_005274013.1:c.*26dup	XP_005274070.1:n.*26dup
XM_005274014.1:c.*26dup	XP_005274071.1:n.*26dup
XM_005274015.1:c.*26dup	XP_005274072.1:n.*26dup
XM_011545053.1:c.*26dup	XP_011543355.1:n.*26dup
NM_002496.4:c.*26dup MANE Select	NP_002487.1:n.*26dup