Canonical Allele Identifier: CA475412871
Gene: NDUFV1 HGNC NCBI

Linked Data

dbSNP Id: rs1854893921
MyVariant Identifiers: chr11:g.67378022C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67610551C>A , CM000673.2:g.67610551C>A GRCh38
NC_000011.9:g.67378022C>A , CM000673.1:g.67378022C>A GRCh37
NC_000011.8:g.67134598C>A NCBI36
NG_013353.1:g.8700C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.681C>A MANE Select ENSP00000322450.6:p.Pro227=
ENST00000647561.1:c.681C>A ENSP00000497587.1:p.Pro227=
ENST00000322776.10:c.681C>A ENSP00000322450.6:p.Pro227=
ENST00000415352.6:c.660C>A ENSP00000395368.2:p.Pro220=
ENST00000526169.1:n.423C>A
ENST00000526770.5:n.540C>A
ENST00000529927.5:c.654C>A ENSP00000436766.1:p.Pro218=
ENST00000532244.5:c.378C>A ENSP00000435202.1:p.Pro126=
ENST00000532303.5:c.378C>A ENSP00000432015.1:p.Pro126=
ENST00000533919.5:c.159C>A ENSP00000435199.1:p.Pro53=
NM_001166102.1:c.654C>A NP_001159574.1:p.Pro218=
NM_007103.3:c.681C>A NP_009034.2:p.Pro227=
NM_001166102.2:c.654C>A NP_001159574.1:p.Pro218=
NM_007103.4:c.681C>A MANE Select NP_009034.2:p.Pro227=