Canonical Allele Identifier: CA323789
Gene: NDUFV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214856
ClinVar RCV Id: RCV000199260
dbSNP Id: rs767602961
ExAC: 11:67377075 G / A
gnomAD v2: 11-67377075-G-A
gnomAD v3: 11-67609604-G-A
gnomAD v4: 11-67609604-G-A
MyVariant Identifiers: chr11:g.67377075G>A (hg19) chr11:g.67609604G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67609604G>A , CM000673.2:g.67609604G>A GRCh38
NC_000011.9:g.67377075G>A , CM000673.1:g.67377075G>A GRCh37
NC_000011.8:g.67133651G>A NCBI36
NG_013353.1:g.7753G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322776.11:c.479G>A MANE Select ENSP00000322450.6:p.Gly160Glu
ENST00000647561.1:c.479G>A ENSP00000497587.1:p.Gly160Glu
ENST00000322776.10:c.479G>A ENSP00000322450.6:p.Gly160Glu
ENST00000415352.6:c.458G>A ENSP00000395368.2:p.Gly153Glu
ENST00000524838.5:n.536G>A
ENST00000525086.5:n.552G>A
ENST00000526169.1:n.221G>A
ENST00000526770.5:n.338G>A
ENST00000528377.1:n.650G>A
ENST00000529867.5:c.443G>A ENSP00000434438.1:p.Gly148Glu
ENST00000529927.5:c.452G>A ENSP00000436766.1:p.Gly151Glu
ENST00000530638.1:c.362G>A ENSP00000436936.1:p.Gly121Glu
ENST00000532244.5:c.176G>A ENSP00000435202.1:p.Gly59Glu
ENST00000532303.5:c.176G>A ENSP00000432015.1:p.Gly59Glu
ENST00000532343.5:c.176G>A ENSP00000431751.1:p.Gly59Glu
ENST00000533075.5:c.458G>A ENSP00000437267.1:p.Gly153Glu
ENST00000534139.5:n.595G>A
NM_001166102.1:c.452G>A NP_001159574.1:p.Gly151Glu
NM_007103.3:c.479G>A NP_009034.2:p.Gly160Glu
NM_001166102.2:c.452G>A NP_001159574.1:p.Gly151Glu
NM_007103.4:c.479G>A MANE Select NP_009034.2:p.Gly160Glu
Search 100 bp 5'
Search 100 bp 3'