Canonical Allele Identifier: CA381569320

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1265062682
• gnomAD v2: 11-67803810-T-C
• gnomAD v3: 11-68036343-T-C
• gnomAD v4: 11-68036343-T-C
• MyVariant Identifiers: chr11:g.67803810T>C (hg19) ; chr11:g.68036343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036343T>C , CM000673.2:g.68036343T>C	GRCh38
NC_000011.9:g.67803810T>C , CM000673.1:g.67803810T>C	GRCh37
NC_000011.8:g.67560386T>C	NCBI36
NG_007878.1:g.2328T>C , LRG_115:g.2328T>C
NG_017040.1:g.10727T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.463T>C MANE Select	ENSP00000315774.5:p.Phe155Leu
ENST00000313468.9:c.463T>C	ENSP00000315774.5:p.Phe155Leu
ENST00000524810.5:c.395T>C
ENST00000525419.5:c.409T>C	ENSP00000433521.1:p.Phe137Leu
ENST00000526339.5:c.463T>C	ENSP00000436287.1:p.Phe155Leu
ENST00000526446.5:c.*518T>C	ENSP00000433645.1:n.*518T>C
ENST00000528492.1:c.25T>C	ENSP00000432848.1:p.Phe9Leu
ENST00000531282.1:n.315T>C
NM_002496.3:c.463T>C	NP_002487.1:p.Phe155Leu
XM_005274013.1:c.463T>C	XP_005274070.1:p.Phe155Leu
XM_005274014.1:c.463T>C	XP_005274071.1:p.Phe155Leu
XM_005274015.1:c.343T>C	XP_005274072.1:p.Phe115Leu
XM_011545053.1:c.463T>C	XP_011543355.1:p.Phe155Leu
NM_002496.4:c.463T>C MANE Select	NP_002487.1:p.Phe155Leu