Canonical Allele Identifier: CA123735
Gene: NDUFV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14056
dbSNP Id: rs121913659

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67612225C>T , CM000673.2:g.67612225C>T GRCh38
NC_000011.9:g.67379696C>T , CM000673.1:g.67379696C>T GRCh37
NC_000011.8:g.67136272C>T NCBI36
NG_013353.1:g.10374C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000322776.11:c.1268C>T MANE Select ENSP00000322450.6:p.Thr423Met
ENST00000647561.1:c.1268C>T ENSP00000497587.1:p.Thr423Met
ENST00000322776.10:c.1268C>T ENSP00000322450.6:p.Thr423Met
ENST00000415352.6:c.1247C>T ENSP00000395368.2:p.Thr416Met
ENST00000526770.5:n.1551C>T
ENST00000527355.5:c.475C>T ENSP00000432637.1:n.475C>T
ENST00000529927.5:c.1241C>T ENSP00000436766.1:p.Thr414Met
ENST00000531250.1:n.532C>T
ENST00000532303.5:c.965C>T ENSP00000432015.1:p.Thr322Met
ENST00000533919.5:c.672C>T ENSP00000435199.1:n.672C>T
ENST00000534352.1:n.507C>T
NM_001166102.1:c.1241C>T NP_001159574.1:p.Thr414Met
NM_007103.3:c.1268C>T NP_009034.2:p.Thr423Met
NM_001166102.2:c.1241C>T NP_001159574.1:p.Thr414Met
NM_007103.4:c.1268C>T MANE Select NP_009034.2:p.Thr423Met