Canonical Allele Identifier: CA320044
Gene: NDUFV1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.67611094G>A
GRCh37 chr11:g.67378565G>A
Revel Score:
ENST00000322776 (MANE Select) 0.618
ENST00000532303 0.618
ENST00000529927 0.618
ENST00000415352 0.618
ENST00000453836 0.618
gnomAD v2:
11:67378565 G / A
gnomAD v3:
11:67611094 G / A
gnomAD v4:
chr11-67611094-G-A
Joint Max Group AF 0.00164897 (MID)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.00173926 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611094G>A , CM000673.2:g.67611094G>A GRCh38
NC_000011.9:g.67378565G>A , CM000673.1:g.67378565G>A GRCh37
NC_000011.8:g.67135141G>A NCBI36
NG_013353.1:g.9243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.800G>A MANE Select ENSP00000322450.6:p.Arg267Lys
ENST00000647561.1:c.800G>A ENSP00000497587.1:p.Arg267Lys
ENST00000322776.10:c.800G>A ENSP00000322450.6:p.Arg267Lys
ENST00000415352.6:c.779G>A ENSP00000395368.2:p.Arg260Lys
ENST00000526169.1:n.542G>A
ENST00000526770.5:n.1083G>A
ENST00000527355.5:c.89G>A ENSP00000432637.1:p.Arg30Lys
ENST00000529927.5:c.773G>A ENSP00000436766.1:p.Arg258Lys
ENST00000532303.5:c.497G>A ENSP00000432015.1:p.Arg166Lys
ENST00000533919.5:c.278G>A ENSP00000435199.1:p.Arg93Lys
NM_001166102.1:c.773G>A NP_001159574.1:p.Arg258Lys
NM_007103.3:c.800G>A NP_009034.2:p.Arg267Lys
NM_001166102.2:c.773G>A NP_001159574.1:p.Arg258Lys
NM_007103.4:c.800G>A MANE Select NP_009034.2:p.Arg267Lys
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