Canonical Allele Identifier: CA381540525

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378899C>G (hg19) ; chr11:g.67611428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611428C>G , CM000673.2:g.67611428C>G	GRCh38
NC_000011.9:g.67378899C>G , CM000673.1:g.67378899C>G	GRCh37
NC_000011.8:g.67135475C>G	NCBI36
NG_013353.1:g.9577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.939C>G MANE Select	ENSP00000322450.6:p.Asn313Lys
ENST00000647561.1:c.939C>G	ENSP00000497587.1:p.Asn313Lys
ENST00000322776.10:c.939C>G	ENSP00000322450.6:p.Asn313Lys
ENST00000415352.6:c.918C>G	ENSP00000395368.2:p.Asn306Lys
ENST00000526169.1:n.656-94C>G
ENST00000526770.5:n.1222C>G
ENST00000527355.5:c.228C>G	ENSP00000432637.1:p.Asn76Lys
ENST00000527923.1:n.281C>G
ENST00000529927.5:c.912C>G	ENSP00000436766.1:p.Asn304Lys
ENST00000532303.5:c.636C>G	ENSP00000432015.1:p.Asn212Lys
ENST00000533919.5:c.392-49C>G	ENSP00000435199.1:n.392-49C>G
NM_001166102.1:c.912C>G	NP_001159574.1:p.Asn304Lys
NM_007103.3:c.939C>G	NP_009034.2:p.Asn313Lys
NM_001166102.2:c.912C>G	NP_001159574.1:p.Asn304Lys
NM_007103.4:c.939C>G MANE Select	NP_009034.2:p.Asn313Lys