Canonical Allele Identifier: CA6143243

Gene: NDUFV1

Linked Data

• dbSNP Id: rs746063542
• ExAC: 11:67378032 G / A
• gnomAD v2: 11-67378032-G-A
• gnomAD v4: 11-67610561-G-A
• MyVariant Identifiers: chr11:g.67378032G>A (hg19) ; chr11:g.67610561G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610561G>A , CM000673.2:g.67610561G>A	GRCh38
NC_000011.9:g.67378032G>A , CM000673.1:g.67378032G>A	GRCh37
NC_000011.8:g.67134608G>A	NCBI36
NG_013353.1:g.8710G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.691G>A MANE Select	ENSP00000322450.6:p.Ala231Thr
ENST00000647561.1:c.691G>A	ENSP00000497587.1:p.Ala231Thr
ENST00000322776.10:c.691G>A	ENSP00000322450.6:p.Ala231Thr
ENST00000415352.6:c.670G>A	ENSP00000395368.2:p.Ala224Thr
ENST00000526169.1:n.433G>A
ENST00000526770.5:n.550G>A
ENST00000529927.5:c.664G>A	ENSP00000436766.1:p.Ala222Thr
ENST00000532244.5:c.388G>A	ENSP00000435202.1:p.Ala130Thr
ENST00000532303.5:c.388G>A	ENSP00000432015.1:p.Ala130Thr
ENST00000533919.5:c.169G>A	ENSP00000435199.1:p.Ala57Thr
NM_001166102.1:c.664G>A	NP_001159574.1:p.Ala222Thr
NM_007103.3:c.691G>A	NP_009034.2:p.Ala231Thr
NM_001166102.2:c.664G>A	NP_001159574.1:p.Ala222Thr
NM_007103.4:c.691G>A MANE Select	NP_009034.2:p.Ala231Thr