Canonical Allele Identifier: CA123738
Gene: NDUFV1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.67610510G>A
GRCh37 chr11:g.67377981G>A
Revel Score:
ENST00000322776 (MANE Select) 0.928
ENST00000532303 0.928
ENST00000532244 0.928
ENST00000529927 0.928
ENST00000415352 0.928
gnomAD v2:
11:67377981 G / A
gnomAD v3:
11:67610510 G / A
gnomAD v4:
chr11-67610510-G-A
Joint Max Group AF 0.00003178 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003257 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67610510G>A , CM000673.2:g.67610510G>A GRCh38
NC_000011.9:g.67377981G>A , CM000673.1:g.67377981G>A GRCh37
NC_000011.8:g.67134557G>A NCBI36
NG_013353.1:g.8659G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.640G>A MANE Select ENSP00000322450.6:p.Glu214Lys
ENST00000647561.1:c.640G>A ENSP00000497587.1:p.Glu214Lys
ENST00000322776.10:c.640G>A ENSP00000322450.6:p.Glu214Lys
ENST00000415352.6:c.619G>A ENSP00000395368.2:p.Glu207Lys
ENST00000526169.1:n.382G>A
ENST00000526770.5:n.499G>A
ENST00000529927.5:c.613G>A ENSP00000436766.1:p.Glu205Lys
ENST00000532244.5:c.337G>A ENSP00000435202.1:p.Glu113Lys
ENST00000532303.5:c.337G>A ENSP00000432015.1:p.Glu113Lys
ENST00000533919.5:c.118G>A ENSP00000435199.1:p.Glu40Lys
NM_001166102.1:c.613G>A NP_001159574.1:p.Glu205Lys
NM_007103.3:c.640G>A NP_009034.2:p.Glu214Lys
NM_001166102.2:c.613G>A NP_001159574.1:p.Glu205Lys
NM_007103.4:c.640G>A MANE Select NP_009034.2:p.Glu214Lys
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