Canonical Allele Identifier: CA381569190

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1854890525
• gnomAD v3: 11-68036323-C-T
• gnomAD v4: 11-68036323-C-T
• MyVariant Identifiers: chr11:g.67803790C>T (hg19) ; chr11:g.68036323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036323C>T , CM000673.2:g.68036323C>T	GRCh38
NC_000011.9:g.67803790C>T , CM000673.1:g.67803790C>T	GRCh37
NC_000011.8:g.67560366C>T	NCBI36
NG_007878.1:g.2308C>T , LRG_115:g.2308C>T
NG_017040.1:g.10707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.443C>T MANE Select	ENSP00000315774.5:p.Thr148Ile
ENST00000313468.9:c.443C>T	ENSP00000315774.5:p.Thr148Ile
ENST00000524810.5:c.375C>T
ENST00000525419.5:c.389C>T	ENSP00000433521.1:p.Thr130Ile
ENST00000526339.5:c.443C>T	ENSP00000436287.1:p.Thr148Ile
ENST00000526446.5:c.*498C>T	ENSP00000433645.1:n.*498C>T
ENST00000528492.1:c.5C>T	ENSP00000432848.1:p.Thr2Ile
ENST00000531282.1:n.295C>T
NM_002496.3:c.443C>T	NP_002487.1:p.Thr148Ile
XM_005274013.1:c.443C>T	XP_005274070.1:p.Thr148Ile
XM_005274014.1:c.443C>T	XP_005274071.1:p.Thr148Ile
XM_005274015.1:c.323C>T	XP_005274072.1:p.Thr108Ile
XM_011545053.1:c.443C>T	XP_011543355.1:p.Thr148Ile
NM_002496.4:c.443C>T MANE Select	NP_002487.1:p.Thr148Ile