Canonical Allele Identifier: CA381540685

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378927T>C (hg19) ; chr11:g.67611456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611456T>C , CM000673.2:g.67611456T>C	GRCh38
NC_000011.9:g.67378927T>C , CM000673.1:g.67378927T>C	GRCh37
NC_000011.8:g.67135503T>C	NCBI36
NG_013353.1:g.9605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.967T>C MANE Select	ENSP00000322450.6:p.Ser323Pro
ENST00000647561.1:c.967T>C	ENSP00000497587.1:p.Ser323Pro
ENST00000322776.10:c.967T>C	ENSP00000322450.6:p.Ser323Pro
ENST00000415352.6:c.946T>C	ENSP00000395368.2:p.Ser316Pro
ENST00000526169.1:n.656-66T>C
ENST00000526770.5:n.1250T>C
ENST00000527355.5:c.256T>C	ENSP00000432637.1:p.Ser86Pro
ENST00000527923.1:n.309T>C
ENST00000529927.5:c.940T>C	ENSP00000436766.1:p.Ser314Pro
ENST00000532303.5:c.664T>C	ENSP00000432015.1:p.Ser222Pro
ENST00000533919.5:c.392-21T>C	ENSP00000435199.1:n.392-21T>C
NM_001166102.1:c.940T>C	NP_001159574.1:p.Ser314Pro
NM_007103.3:c.967T>C	NP_009034.2:p.Ser323Pro
NM_001166102.2:c.940T>C	NP_001159574.1:p.Ser314Pro
NM_007103.4:c.967T>C MANE Select	NP_009034.2:p.Ser323Pro