Canonical Allele Identifier: CA381541869

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67611969-T-C
• MyVariant Identifiers: chr11:g.67379440T>C (hg19) ; chr11:g.67611969T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611969T>C , CM000673.2:g.67611969T>C	GRCh38
NC_000011.9:g.67379440T>C , CM000673.1:g.67379440T>C	GRCh37
NC_000011.8:g.67136016T>C	NCBI36
NG_013353.1:g.10118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1153T>C MANE Select	ENSP00000322450.6:p.Cys385Arg
ENST00000647561.1:c.1153T>C	ENSP00000497587.1:p.Cys385Arg
ENST00000322776.10:c.1153T>C	ENSP00000322450.6:p.Cys385Arg
ENST00000415352.6:c.1132T>C	ENSP00000395368.2:p.Cys378Arg
ENST00000526770.5:n.1436T>C
ENST00000527355.5:c.370-151T>C	ENSP00000432637.1:n.370-151T>C
ENST00000527923.1:n.495T>C
ENST00000529927.5:c.1126T>C	ENSP00000436766.1:p.Cys376Arg
ENST00000531250.1:n.417T>C
ENST00000532303.5:c.850T>C	ENSP00000432015.1:p.Cys284Arg
ENST00000533919.5:c.557T>C	ENSP00000435199.1:n.557T>C
ENST00000534352.1:n.251T>C
NM_001166102.1:c.1126T>C	NP_001159574.1:p.Cys376Arg
NM_007103.3:c.1153T>C	NP_009034.2:p.Cys385Arg
NM_001166102.2:c.1126T>C	NP_001159574.1:p.Cys376Arg
NM_007103.4:c.1153T>C MANE Select	NP_009034.2:p.Cys385Arg