Canonical Allele Identifier: CA475417023

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1018179634
• gnomAD v4: 11-67611461-C-T
• MyVariant Identifiers: chr11:g.67378932C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611461C>T , CM000673.2:g.67611461C>T	GRCh38
NC_000011.9:g.67378932C>T , CM000673.1:g.67378932C>T	GRCh37
NC_000011.8:g.67135508C>T	NCBI36
NG_013353.1:g.9610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.972C>T MANE Select	ENSP00000322450.6:p.Thr324=
ENST00000647561.1:c.972C>T	ENSP00000497587.1:p.Thr324=
ENST00000322776.10:c.972C>T	ENSP00000322450.6:p.Thr324=
ENST00000415352.6:c.951C>T	ENSP00000395368.2:p.Thr317=
ENST00000526169.1:n.656-61C>T
ENST00000526770.5:n.1255C>T
ENST00000527355.5:c.261C>T	ENSP00000432637.1:p.Thr87=
ENST00000527923.1:n.314C>T
ENST00000529927.5:c.945C>T	ENSP00000436766.1:p.Thr315=
ENST00000532303.5:c.669C>T	ENSP00000432015.1:p.Thr223=
ENST00000533919.5:c.392-16C>T	ENSP00000435199.1:n.392-16C>T
NM_001166102.1:c.945C>T	NP_001159574.1:p.Thr315=
NM_007103.3:c.972C>T	NP_009034.2:p.Thr324=
NM_001166102.2:c.945C>T	NP_001159574.1:p.Thr315=
NM_007103.4:c.972C>T MANE Select	NP_009034.2:p.Thr324=