Canonical Allele Identifier: CA381540557

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67611432-C-T
• MyVariant Identifiers: chr11:g.67378903C>T (hg19) ; chr11:g.67611432C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.943C>T MANE Select	ENSP00000322450.6:p.Leu315Phe
ENST00000647561.1:c.943C>T	ENSP00000497587.1:p.Leu315Phe
ENST00000322776.10:c.943C>T	ENSP00000322450.6:p.Leu315Phe
ENST00000415352.6:c.922C>T	ENSP00000395368.2:p.Leu308Phe
ENST00000526169.1:n.656-90C>T
ENST00000526770.5:n.1226C>T
ENST00000527355.5:c.232C>T	ENSP00000432637.1:p.Leu78Phe
ENST00000527923.1:n.285C>T
ENST00000529927.5:c.916C>T	ENSP00000436766.1:p.Leu306Phe
ENST00000532303.5:c.640C>T	ENSP00000432015.1:p.Leu214Phe
ENST00000533919.5:c.392-45C>T	ENSP00000435199.1:n.392-45C>T
NM_001166102.1:c.916C>T	NP_001159574.1:p.Leu306Phe
NM_007103.3:c.943C>T	NP_009034.2:p.Leu315Phe
NM_001166102.2:c.916C>T	NP_001159574.1:p.Leu306Phe
NM_007103.4:c.943C>T MANE Select	NP_009034.2:p.Leu315Phe