Canonical Allele Identifier: CA6146533

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 429611
• ClinVar RCV Id: RCV000493719
• dbSNP Id: rs750075208
• ExAC: 11:67803783 G / A
• gnomAD v2: 11-67803783-G-A
• gnomAD v4: 11-68036316-G-A
• COSMIC: COSM931175
• MyVariant Identifiers: chr11:g.67803783G>A (hg19) ; chr11:g.68036316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036316G>A , CM000673.2:g.68036316G>A	GRCh38
NC_000011.9:g.67803783G>A , CM000673.1:g.67803783G>A	GRCh37
NC_000011.8:g.67560359G>A	NCBI36
NG_007878.1:g.2301G>A , LRG_115:g.2301G>A
NG_017040.1:g.10700G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.436G>A MANE Select	ENSP00000315774.5:p.Asp146Asn
ENST00000313468.9:c.436G>A	ENSP00000315774.5:p.Asp146Asn
ENST00000524810.5:c.368G>A
ENST00000525419.5:c.382G>A	ENSP00000433521.1:p.Asp128Asn
ENST00000526339.5:c.436G>A	ENSP00000436287.1:p.Asp146Asn
ENST00000526446.5:c.*491G>A	ENSP00000433645.1:n.*491G>A
ENST00000528492.1:c.-3G>A	ENSP00000432848.1:n.-3G>A
ENST00000531282.1:n.288G>A
NM_002496.3:c.436G>A	NP_002487.1:p.Asp146Asn
XM_005274013.1:c.436G>A	XP_005274070.1:p.Asp146Asn
XM_005274014.1:c.436G>A	XP_005274071.1:p.Asp146Asn
XM_005274015.1:c.316G>A	XP_005274072.1:p.Asp106Asn
XM_011545053.1:c.436G>A	XP_011543355.1:p.Asp146Asn
NM_002496.4:c.436G>A MANE Select	NP_002487.1:p.Asp146Asn