Canonical Allele Identifier: CA475417170

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378950T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611479T>C , CM000673.2:g.67611479T>C	GRCh38
NC_000011.9:g.67378950T>C , CM000673.1:g.67378950T>C	GRCh37
NC_000011.8:g.67135526T>C	NCBI36
NG_013353.1:g.9628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.990T>C MANE Select	ENSP00000322450.6:p.Ser330=
ENST00000647561.1:c.990T>C	ENSP00000497587.1:p.Ser330=
ENST00000322776.10:c.990T>C	ENSP00000322450.6:p.Ser330=
ENST00000415352.6:c.969T>C	ENSP00000395368.2:p.Ser323=
ENST00000526169.1:n.656-43T>C
ENST00000526770.5:n.1273T>C
ENST00000527355.5:c.279T>C	ENSP00000432637.1:p.Ser93=
ENST00000527923.1:n.332T>C
ENST00000529927.5:c.963T>C	ENSP00000436766.1:p.Ser321=
ENST00000532303.5:c.687T>C	ENSP00000432015.1:p.Ser229=
ENST00000533919.5:c.394T>C	ENSP00000435199.1:p.Cys132Arg
NM_001166102.1:c.963T>C	NP_001159574.1:p.Ser321=
NM_007103.3:c.990T>C	NP_009034.2:p.Ser330=
NM_001166102.2:c.963T>C	NP_001159574.1:p.Ser321=
NM_007103.4:c.990T>C MANE Select	NP_009034.2:p.Ser330=