Canonical Allele Identifier: CA2697548695
Gene: NDUFV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2717238
ClinVar RCV Id: RCV003548685

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611883C>T , CM000673.2:g.67611883C>T GRCh38
NC_000011.9:g.67379354C>T , CM000673.1:g.67379354C>T GRCh37
NC_000011.8:g.67135930C>T NCBI36
NG_013353.1:g.10032C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.1081-14C>T MANE Select ENSP00000322450.6:n.1081-14C>T
ENST00000647561.1:c.1081-14C>T ENSP00000497587.1:n.1081-14C>T
ENST00000322776.10:c.1081-14C>T ENSP00000322450.6:n.1081-14C>T
ENST00000415352.6:c.1060-14C>T ENSP00000395368.2:n.1060-14C>T
ENST00000526169.1:n.704-14C>T
ENST00000526770.5:n.1364-14C>T
ENST00000527355.5:c.370-237C>T ENSP00000432637.1:n.370-237C>T
ENST00000527923.1:n.423-14C>T
ENST00000529927.5:c.1054-14C>T ENSP00000436766.1:n.1054-14C>T
ENST00000531250.1:n.331C>T
ENST00000532303.5:c.778-14C>T ENSP00000432015.1:n.778-14C>T
ENST00000533919.5:c.485-14C>T ENSP00000435199.1:n.485-14C>T
ENST00000534352.1:n.165C>T
NM_001166102.1:c.1054-14C>T NP_001159574.1:n.1054-14C>T
NM_007103.3:c.1081-14C>T NP_009034.2:n.1081-14C>T
NM_001166102.2:c.1054-14C>T NP_001159574.1:n.1054-14C>T
NM_007103.4:c.1081-14C>T MANE Select NP_009034.2:n.1081-14C>T