Canonical Allele Identifier: CA600237152

Gene: NDUFV1

Linked Data

• dbSNP Id: rs185768908
• gnomAD v2: 11-67378071-T-C
• gnomAD v3: 11-67610600-T-C
• gnomAD v4: 11-67610600-T-C
• MyVariant Identifiers: chr11:g.67378071T>C (hg19) ; chr11:g.67610600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610600T>C , CM000673.2:g.67610600T>C	GRCh38
NC_000011.9:g.67378071T>C , CM000673.1:g.67378071T>C	GRCh37
NC_000011.8:g.67134647T>C	NCBI36
NG_013353.1:g.8749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.700+30T>C MANE Select	ENSP00000322450.6:n.700+30T>C
ENST00000647561.1:c.700+30T>C	ENSP00000497587.1:n.700+30T>C
ENST00000322776.10:c.700+30T>C	ENSP00000322450.6:n.700+30T>C
ENST00000415352.6:c.679+30T>C	ENSP00000395368.2:n.679+30T>C
ENST00000526169.1:n.442+30T>C
ENST00000526770.5:n.589T>C
ENST00000529927.5:c.673+30T>C	ENSP00000436766.1:n.673+30T>C
ENST00000532303.5:c.397+30T>C	ENSP00000432015.1:n.397+30T>C
ENST00000533919.5:c.178+30T>C	ENSP00000435199.1:n.178+30T>C
NM_001166102.1:c.673+30T>C	NP_001159574.1:n.673+30T>C
NM_007103.3:c.700+30T>C	NP_009034.2:n.700+30T>C
NM_001166102.2:c.673+30T>C	NP_001159574.1:n.673+30T>C
NM_007103.4:c.700+30T>C MANE Select	NP_009034.2:n.700+30T>C