Canonical Allele Identifier: CA381532599

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67375913G>C (hg19) ; chr11:g.67608442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67608442G>C , CM000673.2:g.67608442G>C	GRCh38
NC_000011.9:g.67375913G>C , CM000673.1:g.67375913G>C	GRCh37
NC_000011.8:g.67132489G>C	NCBI36
NG_013353.1:g.6591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.119G>C MANE Select	ENSP00000322450.6:p.Arg40Pro
ENST00000647561.1:c.119G>C	ENSP00000497587.1:p.Arg40Pro
ENST00000322776.10:c.119G>C	ENSP00000322450.6:p.Arg40Pro
ENST00000415352.6:c.98G>C	ENSP00000395368.2:p.Arg33Pro
ENST00000524838.5:n.176G>C
ENST00000524876.5:n.431G>C
ENST00000525086.5:n.166G>C
ENST00000526138.5:n.481G>C
ENST00000528314.1:c.-185G>C	ENSP00000434581.1:n.-185G>C
ENST00000528328.1:c.68G>C	ENSP00000436906.1:p.Arg23Pro
ENST00000528377.1:n.217G>C
ENST00000528548.5:n.488G>C
ENST00000529867.5:c.83G>C	ENSP00000434438.1:p.Arg28Pro
ENST00000529927.5:c.92G>C	ENSP00000436766.1:p.Arg31Pro
ENST00000530014.5:n.414G>C
ENST00000530103.5:c.*13G>C	ENSP00000434575.1:n.*13G>C
ENST00000530638.1:c.10G>C	ENSP00000436936.1:p.Gly4Arg
ENST00000532244.5:c.-185G>C	ENSP00000435202.1:n.-185G>C
ENST00000532303.5:c.-148-110G>C	ENSP00000432015.1:n.-148-110G>C
ENST00000532343.5:c.-185G>C	ENSP00000431751.1:n.-185G>C
ENST00000533075.5:c.119G>C	ENSP00000437267.1:p.Arg40Pro
ENST00000534139.5:n.162G>C
NM_001166102.1:c.92G>C	NP_001159574.1:p.Arg31Pro
NM_007103.3:c.119G>C	NP_009034.2:p.Arg40Pro
NM_001166102.2:c.92G>C	NP_001159574.1:p.Arg31Pro
NM_007103.4:c.119G>C MANE Select	NP_009034.2:p.Arg40Pro