Canonical Allele Identifier: CA381540794

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378945A>G (hg19) ; chr11:g.67611474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611474A>G , CM000673.2:g.67611474A>G	GRCh38
NC_000011.9:g.67378945A>G , CM000673.1:g.67378945A>G	GRCh37
NC_000011.8:g.67135521A>G	NCBI36
NG_013353.1:g.9623A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.985A>G MANE Select	ENSP00000322450.6:p.Lys329Glu
ENST00000647561.1:c.985A>G	ENSP00000497587.1:p.Lys329Glu
ENST00000322776.10:c.985A>G	ENSP00000322450.6:p.Lys329Glu
ENST00000415352.6:c.964A>G	ENSP00000395368.2:p.Lys322Glu
ENST00000526169.1:n.656-48A>G
ENST00000526770.5:n.1268A>G
ENST00000527355.5:c.274A>G	ENSP00000432637.1:p.Lys92Glu
ENST00000527923.1:n.327A>G
ENST00000529927.5:c.958A>G	ENSP00000436766.1:p.Lys320Glu
ENST00000532303.5:c.682A>G	ENSP00000432015.1:p.Lys228Glu
ENST00000533919.5:c.392-3A>G	ENSP00000435199.1:n.392-3A>G
NM_001166102.1:c.958A>G	NP_001159574.1:p.Lys320Glu
NM_007103.3:c.985A>G	NP_009034.2:p.Lys329Glu
NM_001166102.2:c.958A>G	NP_001159574.1:p.Lys320Glu
NM_007103.4:c.985A>G MANE Select	NP_009034.2:p.Lys329Glu