Canonical Allele Identifier: CA2739270649
Gene: NDUFV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2851947
ClinVar RCV Id: RCV003693356

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611887C>G , CM000673.2:g.67611887C>G GRCh38
NC_000011.9:g.67379358C>G , CM000673.1:g.67379358C>G GRCh37
NC_000011.8:g.67135934C>G NCBI36
NG_013353.1:g.10036C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000322776.11:c.1081-10C>G MANE Select ENSP00000322450.6:n.1081-10C>G
ENST00000647561.1:c.1081-10C>G ENSP00000497587.1:n.1081-10C>G
ENST00000322776.10:c.1081-10C>G ENSP00000322450.6:n.1081-10C>G
ENST00000415352.6:c.1060-10C>G ENSP00000395368.2:n.1060-10C>G
ENST00000526169.1:n.704-10C>G
ENST00000526770.5:n.1364-10C>G
ENST00000527355.5:c.370-233C>G ENSP00000432637.1:n.370-233C>G
ENST00000527923.1:n.423-10C>G
ENST00000529927.5:c.1054-10C>G ENSP00000436766.1:n.1054-10C>G
ENST00000531250.1:n.335C>G
ENST00000532303.5:c.778-10C>G ENSP00000432015.1:n.778-10C>G
ENST00000533919.5:c.485-10C>G ENSP00000435199.1:n.485-10C>G
ENST00000534352.1:n.169C>G
NM_001166102.1:c.1054-10C>G NP_001159574.1:n.1054-10C>G
NM_007103.3:c.1081-10C>G NP_009034.2:n.1081-10C>G
NM_001166102.2:c.1054-10C>G NP_001159574.1:n.1054-10C>G
NM_007103.4:c.1081-10C>G MANE Select NP_009034.2:n.1081-10C>G