Canonical Allele Identifier: CA475417476

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2867971
• ClinVar RCV Id: RCV003703061
• dbSNP Id: rs1282538521
• gnomAD v2: 11-67378989-G-A
• gnomAD v3: 11-67611518-G-A
• gnomAD v4: 11-67611518-G-A
• MyVariant Identifiers: chr11:g.67378989G>A (hg19) ; chr11:g.67611518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611518G>A , CM000673.2:g.67611518G>A	GRCh38
NC_000011.9:g.67378989G>A , CM000673.1:g.67378989G>A	GRCh37
NC_000011.8:g.67135565G>A	NCBI36
NG_013353.1:g.9667G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1029G>A MANE Select	ENSP00000322450.6:p.Val343=
ENST00000647561.1:c.1029G>A	ENSP00000497587.1:p.Val343=
ENST00000322776.10:c.1029G>A	ENSP00000322450.6:p.Val343=
ENST00000415352.6:c.1008G>A	ENSP00000395368.2:p.Val336=
ENST00000526169.1:n.656-4G>A
ENST00000526770.5:n.1312G>A
ENST00000527355.5:c.318G>A	ENSP00000432637.1:p.Val106=
ENST00000527923.1:n.371G>A
ENST00000529927.5:c.1002G>A	ENSP00000436766.1:p.Val334=
ENST00000532303.5:c.726G>A	ENSP00000432015.1:p.Val242=
ENST00000533919.5:c.433G>A	ENSP00000435199.1:n.433G>A
NM_001166102.1:c.1002G>A	NP_001159574.1:p.Val334=
NM_007103.3:c.1029G>A	NP_009034.2:p.Val343=
NM_001166102.2:c.1002G>A	NP_001159574.1:p.Val334=
NM_007103.4:c.1029G>A MANE Select	NP_009034.2:p.Val343=