Canonical Allele Identifier: CA475417167
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67378950T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611479T>G , CM000673.2:g.67611479T>G GRCh38
NC_000011.9:g.67378950T>G , CM000673.1:g.67378950T>G GRCh37
NC_000011.8:g.67135526T>G NCBI36
NG_013353.1:g.9628T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.990T>G MANE Select ENSP00000322450.6:p.Ser330=
ENST00000647561.1:c.990T>G ENSP00000497587.1:p.Ser330=
ENST00000322776.10:c.990T>G ENSP00000322450.6:p.Ser330=
ENST00000415352.6:c.969T>G ENSP00000395368.2:p.Ser323=
ENST00000526169.1:n.656-43T>G
ENST00000526770.5:n.1273T>G
ENST00000527355.5:c.279T>G ENSP00000432637.1:p.Ser93=
ENST00000527923.1:n.332T>G
ENST00000529927.5:c.963T>G ENSP00000436766.1:p.Ser321=
ENST00000532303.5:c.687T>G ENSP00000432015.1:p.Ser229=
ENST00000533919.5:c.394T>G ENSP00000435199.1:p.Cys132Gly
NM_001166102.1:c.963T>G NP_001159574.1:p.Ser321=
NM_007103.3:c.990T>G NP_009034.2:p.Ser330=
NM_001166102.2:c.963T>G NP_001159574.1:p.Ser321=
NM_007103.4:c.990T>G MANE Select NP_009034.2:p.Ser330=