Canonical Allele Identifier: CA381537463

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67610553-C-T
• MyVariant Identifiers: chr11:g.67378024C>T (hg19) ; chr11:g.67610553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610553C>T , CM000673.2:g.67610553C>T	GRCh38
NC_000011.9:g.67378024C>T , CM000673.1:g.67378024C>T	GRCh37
NC_000011.8:g.67134600C>T	NCBI36
NG_013353.1:g.8702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.683C>T MANE Select	ENSP00000322450.6:p.Pro228Leu
ENST00000647561.1:c.683C>T	ENSP00000497587.1:p.Pro228Leu
ENST00000322776.10:c.683C>T	ENSP00000322450.6:p.Pro228Leu
ENST00000415352.6:c.662C>T	ENSP00000395368.2:p.Pro221Leu
ENST00000526169.1:n.425C>T
ENST00000526770.5:n.542C>T
ENST00000529927.5:c.656C>T	ENSP00000436766.1:p.Pro219Leu
ENST00000532244.5:c.380C>T	ENSP00000435202.1:p.Pro127Leu
ENST00000532303.5:c.380C>T	ENSP00000432015.1:p.Pro127Leu
ENST00000533919.5:c.161C>T	ENSP00000435199.1:p.Pro54Leu
NM_001166102.1:c.656C>T	NP_001159574.1:p.Pro219Leu
NM_007103.3:c.683C>T	NP_009034.2:p.Pro228Leu
NM_001166102.2:c.656C>T	NP_001159574.1:p.Pro219Leu
NM_007103.4:c.683C>T MANE Select	NP_009034.2:p.Pro228Leu