Canonical Allele Identifier: CA600238531

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1378620749
• gnomAD v2: 11-67804091-A-C
• gnomAD v3: 11-68036624-A-C
• gnomAD v4: 11-68036624-A-C
• MyVariant Identifiers: chr11:g.67804091A>C (hg19) ; chr11:g.68036624A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036624A>C , CM000673.2:g.68036624A>C	GRCh38
NC_000011.9:g.67804091A>C , CM000673.1:g.67804091A>C	GRCh37
NC_000011.8:g.67560667A>C	NCBI36
NG_007878.1:g.2609A>C , LRG_115:g.2609A>C
NG_017040.1:g.11008A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.*31A>C MANE Select	ENSP00000315774.5:n.*31A>C
ENST00000313468.9:c.*31A>C	ENSP00000315774.5:n.*31A>C
ENST00000524810.5:c.596A>C
ENST00000528492.1:c.*31A>C	ENSP00000432848.1:n.*31A>C
ENST00000531282.1:n.516A>C
NM_002496.3:c.*31A>C	NP_002487.1:n.*31A>C
XM_005274013.1:c.*31A>C	XP_005274070.1:n.*31A>C
XM_005274014.1:c.*31A>C	XP_005274071.1:n.*31A>C
XM_005274015.1:c.*31A>C	XP_005274072.1:n.*31A>C
XM_011545053.1:c.*31A>C	XP_011543355.1:n.*31A>C
NM_002496.4:c.*31A>C MANE Select	NP_002487.1:n.*31A>C