Canonical Allele Identifier: CA320261

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 214837
• ClinVar RCV Id: RCV000195877
• dbSNP Id: rs863224114
• gnomAD v2: 11-67800691-C-T
• gnomAD v3: 11-68033224-C-T
• gnomAD v4: 11-68033224-C-T
• MyVariant Identifiers: chr11:g.67800691C>T (hg19) ; chr11:g.68033224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033224C>T , CM000673.2:g.68033224C>T	GRCh38
NC_000011.9:g.67800691C>T , CM000673.1:g.67800691C>T	GRCh37
NC_000011.8:g.67557267C>T	NCBI36
NG_017040.1:g.7608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.313C>T MANE Select	ENSP00000315774.5:p.Pro105Ser
ENST00000313468.9:c.313C>T	ENSP00000315774.5:p.Pro105Ser
ENST00000432321.6:n.430C>T
ENST00000453471.6:c.313C>T	ENSP00000403972.2:p.Pro105Ser
ENST00000524810.5:c.84C>T
ENST00000525419.5:c.259C>T	ENSP00000433521.1:p.Pro87Ser
ENST00000525628.1:c.313C>T	ENSP00000432968.1:p.Pro105Ser
ENST00000526339.5:c.313C>T	ENSP00000436287.1:p.Pro105Ser
ENST00000526446.5:c.*368C>T	ENSP00000433645.1:n.*368C>T
ENST00000528492.1:c.-67+2491C>T	ENSP00000432848.1:n.-67+2491C>T
ENST00000529645.1:c.491C>T	ENSP00000431293.1:n.491C>T
ENST00000532399.1:n.1018C>T
NM_002496.3:c.313C>T	NP_002487.1:p.Pro105Ser
XM_005274013.1:c.313C>T	XP_005274070.1:p.Pro105Ser
XM_005274014.1:c.313C>T	XP_005274071.1:p.Pro105Ser
XM_005274015.1:c.193C>T	XP_005274072.1:p.Pro65Ser
XM_011545053.1:c.313C>T	XP_011543355.1:p.Pro105Ser
NM_002496.4:c.313C>T MANE Select	NP_002487.1:p.Pro105Ser