Canonical Allele Identifier: CA6146509

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 424985
• ClinVar RCV Id: RCV000487603 ; RCV003902735
• dbSNP Id: rs753246393
• ExAC: 11:67803715 C / T
• gnomAD v2: 11-67803715-C-T
• gnomAD v3: 11-68036248-C-T
• gnomAD v4: 11-68036248-C-T
• MyVariant Identifiers: chr11:g.67803715C>T (hg19) ; chr11:g.68036248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036248C>T , CM000673.2:g.68036248C>T	GRCh38
NC_000011.9:g.67803715C>T , CM000673.1:g.67803715C>T	GRCh37
NC_000011.8:g.67560291C>T	NCBI36
NG_007878.1:g.2233C>T , LRG_115:g.2233C>T
NG_017040.1:g.10632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.373-5C>T MANE Select	ENSP00000315774.5:n.373-5C>T
ENST00000313468.9:c.373-5C>T	ENSP00000315774.5:n.373-5C>T
ENST00000524810.5:c.305-5C>T
ENST00000525419.5:c.319-5C>T	ENSP00000433521.1:n.319-5C>T
ENST00000526339.5:c.373-5C>T	ENSP00000436287.1:n.373-5C>T
ENST00000526446.5:c.*428-5C>T	ENSP00000433645.1:n.*428-5C>T
ENST00000526542.1:n.324-5C>T
ENST00000528492.1:c.-66-5C>T	ENSP00000432848.1:n.-66-5C>T
ENST00000531282.1:n.220C>T
NM_002496.3:c.373-5C>T	NP_002487.1:n.373-5C>T
XM_005274013.1:c.373-5C>T	XP_005274070.1:n.373-5C>T
XM_005274014.1:c.373-5C>T	XP_005274071.1:n.373-5C>T
XM_005274015.1:c.253-5C>T	XP_005274072.1:n.253-5C>T
XM_011545053.1:c.373-5C>T	XP_011543355.1:n.373-5C>T
NM_002496.4:c.373-5C>T MANE Select	NP_002487.1:n.373-5C>T