Canonical Allele Identifier: CA381540558

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378903C>A (hg19) ; chr11:g.67611432C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611432C>A , CM000673.2:g.67611432C>A	GRCh38
NC_000011.9:g.67378903C>A , CM000673.1:g.67378903C>A	GRCh37
NC_000011.8:g.67135479C>A	NCBI36
NG_013353.1:g.9581C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.943C>A MANE Select	ENSP00000322450.6:p.Leu315Ile
ENST00000647561.1:c.943C>A	ENSP00000497587.1:p.Leu315Ile
ENST00000322776.10:c.943C>A	ENSP00000322450.6:p.Leu315Ile
ENST00000415352.6:c.922C>A	ENSP00000395368.2:p.Leu308Ile
ENST00000526169.1:n.656-90C>A
ENST00000526770.5:n.1226C>A
ENST00000527355.5:c.232C>A	ENSP00000432637.1:p.Leu78Ile
ENST00000527923.1:n.285C>A
ENST00000529927.5:c.916C>A	ENSP00000436766.1:p.Leu306Ile
ENST00000532303.5:c.640C>A	ENSP00000432015.1:p.Leu214Ile
ENST00000533919.5:c.392-45C>A	ENSP00000435199.1:n.392-45C>A
NM_001166102.1:c.916C>A	NP_001159574.1:p.Leu306Ile
NM_007103.3:c.943C>A	NP_009034.2:p.Leu315Ile
NM_001166102.2:c.916C>A	NP_001159574.1:p.Leu306Ile
NM_007103.4:c.943C>A MANE Select	NP_009034.2:p.Leu315Ile