Canonical Allele Identifier: CA381540661

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378924T>G (hg19) ; chr11:g.67611453T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611453T>G , CM000673.2:g.67611453T>G	GRCh38
NC_000011.9:g.67378924T>G , CM000673.1:g.67378924T>G	GRCh37
NC_000011.8:g.67135500T>G	NCBI36
NG_013353.1:g.9602T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.964T>G MANE Select	ENSP00000322450.6:p.Ser322Ala
ENST00000647561.1:c.964T>G	ENSP00000497587.1:p.Ser322Ala
ENST00000322776.10:c.964T>G	ENSP00000322450.6:p.Ser322Ala
ENST00000415352.6:c.943T>G	ENSP00000395368.2:p.Ser315Ala
ENST00000526169.1:n.656-69T>G
ENST00000526770.5:n.1247T>G
ENST00000527355.5:c.253T>G	ENSP00000432637.1:p.Ser85Ala
ENST00000527923.1:n.306T>G
ENST00000529927.5:c.937T>G	ENSP00000436766.1:p.Ser313Ala
ENST00000532303.5:c.661T>G	ENSP00000432015.1:p.Ser221Ala
ENST00000533919.5:c.392-24T>G	ENSP00000435199.1:n.392-24T>G
NM_001166102.1:c.937T>G	NP_001159574.1:p.Ser313Ala
NM_007103.3:c.964T>G	NP_009034.2:p.Ser322Ala
NM_001166102.2:c.937T>G	NP_001159574.1:p.Ser313Ala
NM_007103.4:c.964T>G MANE Select	NP_009034.2:p.Ser322Ala