Canonical Allele Identifier: CA475416978
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67378926G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611455G>T , CM000673.2:g.67611455G>T GRCh38
NC_000011.9:g.67378926G>T , CM000673.1:g.67378926G>T GRCh37
NC_000011.8:g.67135502G>T NCBI36
NG_013353.1:g.9604G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.966G>T MANE Select ENSP00000322450.6:p.Ser322=
ENST00000647561.1:c.966G>T ENSP00000497587.1:p.Ser322=
ENST00000322776.10:c.966G>T ENSP00000322450.6:p.Ser322=
ENST00000415352.6:c.945G>T ENSP00000395368.2:p.Ser315=
ENST00000526169.1:n.656-67G>T
ENST00000526770.5:n.1249G>T
ENST00000527355.5:c.255G>T ENSP00000432637.1:p.Ser85=
ENST00000527923.1:n.308G>T
ENST00000529927.5:c.939G>T ENSP00000436766.1:p.Ser313=
ENST00000532303.5:c.663G>T ENSP00000432015.1:p.Ser221=
ENST00000533919.5:c.392-22G>T ENSP00000435199.1:n.392-22G>T
NM_001166102.1:c.939G>T NP_001159574.1:p.Ser313=
NM_007103.3:c.966G>T NP_009034.2:p.Ser322=
NM_001166102.2:c.939G>T NP_001159574.1:p.Ser313=
NM_007103.4:c.966G>T MANE Select NP_009034.2:p.Ser322=