Canonical Allele Identifier: CA6143231

Gene: NDUFV1

Linked Data

• dbSNP Id: rs767064234
• ExAC: 11:67377988 T / C
• gnomAD v2: 11-67377988-T-C
• gnomAD v3: 11-67610517-T-C
• gnomAD v4: 11-67610517-T-C
• MyVariant Identifiers: chr11:g.67377988T>C (hg19) ; chr11:g.67610517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610517T>C , CM000673.2:g.67610517T>C	GRCh38
NC_000011.9:g.67377988T>C , CM000673.1:g.67377988T>C	GRCh37
NC_000011.8:g.67134564T>C	NCBI36
NG_013353.1:g.8666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.647T>C MANE Select	ENSP00000322450.6:p.Ile216Thr
ENST00000647561.1:c.647T>C	ENSP00000497587.1:p.Ile216Thr
ENST00000322776.10:c.647T>C	ENSP00000322450.6:p.Ile216Thr
ENST00000415352.6:c.626T>C	ENSP00000395368.2:p.Ile209Thr
ENST00000526169.1:n.389T>C
ENST00000526770.5:n.506T>C
ENST00000529927.5:c.620T>C	ENSP00000436766.1:p.Ile207Thr
ENST00000532244.5:c.344T>C	ENSP00000435202.1:p.Ile115Thr
ENST00000532303.5:c.344T>C	ENSP00000432015.1:p.Ile115Thr
ENST00000533919.5:c.125T>C	ENSP00000435199.1:p.Ile42Thr
NM_001166102.1:c.620T>C	NP_001159574.1:p.Ile207Thr
NM_007103.3:c.647T>C	NP_009034.2:p.Ile216Thr
NM_001166102.2:c.620T>C	NP_001159574.1:p.Ile207Thr
NM_007103.4:c.647T>C MANE Select	NP_009034.2:p.Ile216Thr