Canonical Allele Identifier: CA475441231

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1367879985
• gnomAD v2: 11-67803767-C-G
• gnomAD v3: 11-68036300-C-G
• gnomAD v4: 11-68036300-C-G
• MyVariant Identifiers: chr11:g.67803767C>G (hg19) ; chr11:g.68036300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036300C>G , CM000673.2:g.68036300C>G	GRCh38
NC_000011.9:g.67803767C>G , CM000673.1:g.67803767C>G	GRCh37
NC_000011.8:g.67560343C>G	NCBI36
NG_007878.1:g.2285C>G , LRG_115:g.2285C>G
NG_017040.1:g.10684C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.420C>G MANE Select	ENSP00000315774.5:p.Thr140=
ENST00000313468.9:c.420C>G	ENSP00000315774.5:p.Thr140=
ENST00000524810.5:c.352C>G
ENST00000525419.5:c.366C>G	ENSP00000433521.1:p.Thr122=
ENST00000526339.5:c.420C>G	ENSP00000436287.1:p.Thr140=
ENST00000526446.5:c.*475C>G	ENSP00000433645.1:n.*475C>G
ENST00000526542.1:n.371C>G
ENST00000528492.1:c.-19C>G	ENSP00000432848.1:n.-19C>G
ENST00000531282.1:n.272C>G
NM_002496.3:c.420C>G	NP_002487.1:p.Thr140=
XM_005274013.1:c.420C>G	XP_005274070.1:p.Thr140=
XM_005274014.1:c.420C>G	XP_005274071.1:p.Thr140=
XM_005274015.1:c.300C>G	XP_005274072.1:p.Thr100=
XM_011545053.1:c.420C>G	XP_011543355.1:p.Thr140=
NM_002496.4:c.420C>G MANE Select	NP_002487.1:p.Thr140=