Canonical Allele Identifier: CA381540843

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1409115422
• gnomAD v2: 11-67378959-G-C
• gnomAD v4: 11-67611488-G-C
• MyVariant Identifiers: chr11:g.67378959G>C (hg19) ; chr11:g.67611488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611488G>C , CM000673.2:g.67611488G>C	GRCh38
NC_000011.9:g.67378959G>C , CM000673.1:g.67378959G>C	GRCh37
NC_000011.8:g.67135535G>C	NCBI36
NG_013353.1:g.9637G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.999G>C MANE Select	ENSP00000322450.6:p.Glu333Asp
ENST00000647561.1:c.999G>C	ENSP00000497587.1:p.Glu333Asp
ENST00000322776.10:c.999G>C	ENSP00000322450.6:p.Glu333Asp
ENST00000415352.6:c.978G>C	ENSP00000395368.2:p.Glu326Asp
ENST00000526169.1:n.656-34G>C
ENST00000526770.5:n.1282G>C
ENST00000527355.5:c.288G>C	ENSP00000432637.1:p.Glu96Asp
ENST00000527923.1:n.341G>C
ENST00000529927.5:c.972G>C	ENSP00000436766.1:p.Glu324Asp
ENST00000532303.5:c.696G>C	ENSP00000432015.1:p.Glu232Asp
ENST00000533919.5:c.403G>C	ENSP00000435199.1:n.403G>C
NM_001166102.1:c.972G>C	NP_001159574.1:p.Glu324Asp
NM_007103.3:c.999G>C	NP_009034.2:p.Glu333Asp
NM_001166102.2:c.972G>C	NP_001159574.1:p.Glu324Asp
NM_007103.4:c.999G>C MANE Select	NP_009034.2:p.Glu333Asp