Canonical Allele Identifier: CA224180324

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1036709921
• gnomAD v2: 11-67378024-C-G
• gnomAD v4: 11-67610553-C-G
• MyVariant Identifiers: chr11:g.67378024C>G (hg19) ; chr11:g.67610553C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.683C>G MANE Select	ENSP00000322450.6:p.Pro228Arg
ENST00000647561.1:c.683C>G	ENSP00000497587.1:p.Pro228Arg
ENST00000322776.10:c.683C>G	ENSP00000322450.6:p.Pro228Arg
ENST00000415352.6:c.662C>G	ENSP00000395368.2:p.Pro221Arg
ENST00000526169.1:n.425C>G
ENST00000526770.5:n.542C>G
ENST00000529927.5:c.656C>G	ENSP00000436766.1:p.Pro219Arg
ENST00000532244.5:c.380C>G	ENSP00000435202.1:p.Pro127Arg
ENST00000532303.5:c.380C>G	ENSP00000432015.1:p.Pro127Arg
ENST00000533919.5:c.161C>G	ENSP00000435199.1:p.Pro54Arg
NM_001166102.1:c.656C>G	NP_001159574.1:p.Pro219Arg
NM_007103.3:c.683C>G	NP_009034.2:p.Pro228Arg
NM_001166102.2:c.656C>G	NP_001159574.1:p.Pro219Arg
NM_007103.4:c.683C>G MANE Select	NP_009034.2:p.Pro228Arg