Canonical Allele Identifier: CA381537615

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1331489213
• gnomAD v2: 11-67378038-G-T
• MyVariant Identifiers: chr11:g.67378038G>T (hg19) ; chr11:g.67610567G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610567G>T , CM000673.2:g.67610567G>T	GRCh38
NC_000011.9:g.67378038G>T , CM000673.1:g.67378038G>T	GRCh37
NC_000011.8:g.67134614G>T	NCBI36
NG_013353.1:g.8716G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.697G>T MANE Select	ENSP00000322450.6:p.Val233Leu
ENST00000647561.1:c.697G>T	ENSP00000497587.1:p.Val233Leu
ENST00000322776.10:c.697G>T	ENSP00000322450.6:p.Val233Leu
ENST00000415352.6:c.676G>T	ENSP00000395368.2:p.Val226Leu
ENST00000526169.1:n.439G>T
ENST00000526770.5:n.556G>T
ENST00000529927.5:c.670G>T	ENSP00000436766.1:p.Val224Leu
ENST00000532244.5:c.394G>T	ENSP00000435202.1:p.Val132Leu
ENST00000532303.5:c.394G>T	ENSP00000432015.1:p.Val132Leu
ENST00000533919.5:c.175G>T	ENSP00000435199.1:p.Val59Leu
NM_001166102.1:c.670G>T	NP_001159574.1:p.Val224Leu
NM_007103.3:c.697G>T	NP_009034.2:p.Val233Leu
NM_001166102.2:c.670G>T	NP_001159574.1:p.Val224Leu
NM_007103.4:c.697G>T MANE Select	NP_009034.2:p.Val233Leu