Canonical Allele Identifier: CA6143343

Gene: NDUFV1

Linked Data

• dbSNP Id: rs764179536
• ExAC: 11:67378913 T / C
• gnomAD v2: 11-67378913-T-C
• MyVariant Identifiers: chr11:g.67378913T>C (hg19) ; chr11:g.67611442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611442T>C , CM000673.2:g.67611442T>C	GRCh38
NC_000011.9:g.67378913T>C , CM000673.1:g.67378913T>C	GRCh37
NC_000011.8:g.67135489T>C	NCBI36
NG_013353.1:g.9591T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.953T>C MANE Select	ENSP00000322450.6:p.Ile318Thr
ENST00000647561.1:c.953T>C	ENSP00000497587.1:p.Ile318Thr
ENST00000322776.10:c.953T>C	ENSP00000322450.6:p.Ile318Thr
ENST00000415352.6:c.932T>C	ENSP00000395368.2:p.Ile311Thr
ENST00000526169.1:n.656-80T>C
ENST00000526770.5:n.1236T>C
ENST00000527355.5:c.242T>C	ENSP00000432637.1:p.Ile81Thr
ENST00000527923.1:n.295T>C
ENST00000529927.5:c.926T>C	ENSP00000436766.1:p.Ile309Thr
ENST00000532303.5:c.650T>C	ENSP00000432015.1:p.Ile217Thr
ENST00000533919.5:c.392-35T>C	ENSP00000435199.1:n.392-35T>C
NM_001166102.1:c.926T>C	NP_001159574.1:p.Ile309Thr
NM_007103.3:c.953T>C	NP_009034.2:p.Ile318Thr
NM_001166102.2:c.926T>C	NP_001159574.1:p.Ile309Thr
NM_007103.4:c.953T>C MANE Select	NP_009034.2:p.Ile318Thr