Canonical Allele Identifier: CA381537286

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67610537-C-A
• MyVariant Identifiers: chr11:g.67378008C>A (hg19) ; chr11:g.67610537C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610537C>A , CM000673.2:g.67610537C>A	GRCh38
NC_000011.9:g.67378008C>A , CM000673.1:g.67378008C>A	GRCh37
NC_000011.8:g.67134584C>A	NCBI36
NG_013353.1:g.8686C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.667C>A MANE Select	ENSP00000322450.6:p.Pro223Thr
ENST00000647561.1:c.667C>A	ENSP00000497587.1:p.Pro223Thr
ENST00000322776.10:c.667C>A	ENSP00000322450.6:p.Pro223Thr
ENST00000415352.6:c.646C>A	ENSP00000395368.2:p.Pro216Thr
ENST00000526169.1:n.409C>A
ENST00000526770.5:n.526C>A
ENST00000529927.5:c.640C>A	ENSP00000436766.1:p.Pro214Thr
ENST00000532244.5:c.364C>A	ENSP00000435202.1:p.Pro122Thr
ENST00000532303.5:c.364C>A	ENSP00000432015.1:p.Pro122Thr
ENST00000533919.5:c.145C>A	ENSP00000435199.1:p.Pro49Thr
NM_001166102.1:c.640C>A	NP_001159574.1:p.Pro214Thr
NM_007103.3:c.667C>A	NP_009034.2:p.Pro223Thr
NM_001166102.2:c.640C>A	NP_001159574.1:p.Pro214Thr
NM_007103.4:c.667C>A MANE Select	NP_009034.2:p.Pro223Thr