Canonical Allele Identifier: CA6146575

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 305772
• ClinVar RCV Id: RCV000265926 ; RCV000356692 ; RCV001718621
• dbSNP Id: rs1804688
• ExAC: 11:67804024 C / T
• gnomAD v2: 11-67804024-C-T
• gnomAD v3: 11-68036557-C-T
• gnomAD v4: 11-68036557-C-T
• MyVariant Identifiers: chr11:g.67804024C>T (hg19) ; chr11:g.68036557C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036557C>T , CM000673.2:g.68036557C>T	GRCh38
NC_000011.9:g.67804024C>T , CM000673.1:g.67804024C>T	GRCh37
NC_000011.8:g.67560600C>T	NCBI36
NG_007878.1:g.2542C>T , LRG_115:g.2542C>T
NG_017040.1:g.10941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.597C>T MANE Select	ENSP00000315774.5:p.Ile199=
ENST00000313468.9:c.597C>T	ENSP00000315774.5:p.Ile199=
ENST00000524810.5:c.529C>T
ENST00000528492.1:c.159C>T	ENSP00000432848.1:p.Ile53=
ENST00000531282.1:n.449C>T
NM_002496.3:c.597C>T	NP_002487.1:p.Ile199=
XM_005274013.1:c.597C>T	XP_005274070.1:p.Ile199=
XM_005274014.1:c.597C>T	XP_005274071.1:p.Ile199=
XM_005274015.1:c.477C>T	XP_005274072.1:p.Ile159=
XM_011545053.1:c.597C>T	XP_011543355.1:p.Ile199=
NM_002496.4:c.597C>T MANE Select	NP_002487.1:p.Ile199=