Canonical Allele Identifier: CA381537444

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378023C>A (hg19) ; chr11:g.67610552C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610552C>A , CM000673.2:g.67610552C>A	GRCh38
NC_000011.9:g.67378023C>A , CM000673.1:g.67378023C>A	GRCh37
NC_000011.8:g.67134599C>A	NCBI36
NG_013353.1:g.8701C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.682C>A MANE Select	ENSP00000322450.6:p.Pro228Thr
ENST00000647561.1:c.682C>A	ENSP00000497587.1:p.Pro228Thr
ENST00000322776.10:c.682C>A	ENSP00000322450.6:p.Pro228Thr
ENST00000415352.6:c.661C>A	ENSP00000395368.2:p.Pro221Thr
ENST00000526169.1:n.424C>A
ENST00000526770.5:n.541C>A
ENST00000529927.5:c.655C>A	ENSP00000436766.1:p.Pro219Thr
ENST00000532244.5:c.379C>A	ENSP00000435202.1:p.Pro127Thr
ENST00000532303.5:c.379C>A	ENSP00000432015.1:p.Pro127Thr
ENST00000533919.5:c.160C>A	ENSP00000435199.1:p.Pro54Thr
NM_001166102.1:c.655C>A	NP_001159574.1:p.Pro219Thr
NM_007103.3:c.682C>A	NP_009034.2:p.Pro228Thr
NM_001166102.2:c.655C>A	NP_001159574.1:p.Pro219Thr
NM_007103.4:c.682C>A MANE Select	NP_009034.2:p.Pro228Thr