Canonical Allele Identifier: CA381569840

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 1946433
• ClinVar RCV Id: RCV002658899
• dbSNP Id: rs1565147872
• gnomAD v2: 11-67803978-A-T
• gnomAD v4: 11-68036511-A-T
• MyVariant Identifiers: chr11:g.67803978A>T (hg19) ; chr11:g.67803978_67803979delinsTC (hg19) ; chr11:g.68036511A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036511A>T , CM000673.2:g.68036511A>T	GRCh38
NC_000011.9:g.67803978A>T , CM000673.1:g.67803978A>T	GRCh37
NC_000011.8:g.67560554A>T	NCBI36
NG_007878.1:g.2496A>T , LRG_115:g.2496A>T
NG_017040.1:g.10895A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.551A>T MANE Select	ENSP00000315774.5:p.Asn184Ile
ENST00000313468.9:c.551A>T	ENSP00000315774.5:p.Asn184Ile
ENST00000524810.5:c.483A>T
ENST00000526339.5:c.551A>T	ENSP00000436287.1:p.Asn184Ile
ENST00000526446.5:c.*606A>T	ENSP00000433645.1:n.*606A>T
ENST00000528492.1:c.113A>T	ENSP00000432848.1:p.Asn38Ile
ENST00000531282.1:n.403A>T
NM_002496.3:c.551A>T	NP_002487.1:p.Asn184Ile
XM_005274013.1:c.551A>T	XP_005274070.1:p.Asn184Ile
XM_005274014.1:c.551A>T	XP_005274071.1:p.Asn184Ile
XM_005274015.1:c.431A>T	XP_005274072.1:p.Asn144Ile
XM_011545053.1:c.551A>T	XP_011543355.1:p.Asn184Ile
NM_002496.4:c.551A>T MANE Select	NP_002487.1:p.Asn184Ile