Canonical Allele Identifier: CA6143399

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 1987040
• ClinVar RCV Id: RCV002770979
• dbSNP Id: rs747260667
• ExAC: 11:67379369 C / T
• gnomAD v2: 11-67379369-C-T
• gnomAD v3: 11-67611898-C-T
• gnomAD v4: 11-67611898-C-T
• MyVariant Identifiers: chr11:g.67379369C>T (hg19) ; chr11:g.67611898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611898C>T , CM000673.2:g.67611898C>T	GRCh38
NC_000011.9:g.67379369C>T , CM000673.1:g.67379369C>T	GRCh37
NC_000011.8:g.67135945C>T	NCBI36
NG_013353.1:g.10047C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1082C>T MANE Select	ENSP00000322450.6:p.Thr361Met
ENST00000647561.1:c.1082C>T	ENSP00000497587.1:p.Thr361Met
ENST00000322776.10:c.1082C>T	ENSP00000322450.6:p.Thr361Met
ENST00000415352.6:c.1061C>T	ENSP00000395368.2:p.Thr354Met
ENST00000526169.1:n.705C>T
ENST00000526770.5:n.1365C>T
ENST00000527355.5:c.370-222C>T	ENSP00000432637.1:n.370-222C>T
ENST00000527923.1:n.424C>T
ENST00000529927.5:c.1055C>T	ENSP00000436766.1:p.Thr352Met
ENST00000531250.1:n.346C>T
ENST00000532303.5:c.779C>T	ENSP00000432015.1:p.Thr260Met
ENST00000533919.5:c.486C>T	ENSP00000435199.1:n.486C>T
ENST00000534352.1:n.180C>T
NM_001166102.1:c.1055C>T	NP_001159574.1:p.Thr352Met
NM_007103.3:c.1082C>T	NP_009034.2:p.Thr361Met
NM_001166102.2:c.1055C>T	NP_001159574.1:p.Thr352Met
NM_007103.4:c.1082C>T MANE Select	NP_009034.2:p.Thr361Met