Canonical Allele Identifier: CA475412219
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67377882C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67610411C>T , CM000673.2:g.67610411C>T GRCh38
NC_000011.9:g.67377882C>T , CM000673.1:g.67377882C>T GRCh37
NC_000011.8:g.67134458C>T NCBI36
NG_013353.1:g.8560C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.541C>T MANE Select ENSP00000322450.6:p.Leu181=
ENST00000647561.1:c.541C>T ENSP00000497587.1:p.Leu181=
ENST00000322776.10:c.541C>T ENSP00000322450.6:p.Leu181=
ENST00000415352.6:c.520C>T ENSP00000395368.2:p.Leu174=
ENST00000526169.1:n.283C>T
ENST00000526770.5:n.400C>T
ENST00000529867.5:c.505C>T ENSP00000434438.1:p.Leu169=
ENST00000529927.5:c.514C>T ENSP00000436766.1:p.Leu172=
ENST00000530638.1:c.424C>T ENSP00000436936.1:p.Leu142=
ENST00000532244.5:c.238C>T ENSP00000435202.1:p.Leu80=
ENST00000532303.5:c.238C>T ENSP00000432015.1:p.Leu80=
ENST00000532343.5:c.238C>T ENSP00000431751.1:p.Leu80=
ENST00000533075.5:c.520C>T ENSP00000437267.1:p.Leu174=
ENST00000533919.5:c.19C>T ENSP00000435199.1:p.Leu7=
NM_001166102.1:c.514C>T NP_001159574.1:p.Leu172=
NM_007103.3:c.541C>T NP_009034.2:p.Leu181=
NM_001166102.2:c.514C>T NP_001159574.1:p.Leu172=
NM_007103.4:c.541C>T MANE Select NP_009034.2:p.Leu181=