Canonical Allele Identifier: CA475417312
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67378965G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611494G>T , CM000673.2:g.67611494G>T GRCh38
NC_000011.9:g.67378965G>T , CM000673.1:g.67378965G>T GRCh37
NC_000011.8:g.67135541G>T NCBI36
NG_013353.1:g.9643G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.1005G>T MANE Select ENSP00000322450.6:p.Val335=
ENST00000647561.1:c.1005G>T ENSP00000497587.1:p.Val335=
ENST00000322776.10:c.1005G>T ENSP00000322450.6:p.Val335=
ENST00000415352.6:c.984G>T ENSP00000395368.2:p.Val328=
ENST00000526169.1:n.656-28G>T
ENST00000526770.5:n.1288G>T
ENST00000527355.5:c.294G>T ENSP00000432637.1:p.Val98=
ENST00000527923.1:n.347G>T
ENST00000529927.5:c.978G>T ENSP00000436766.1:p.Val326=
ENST00000532303.5:c.702G>T ENSP00000432015.1:p.Val234=
ENST00000533919.5:c.409G>T ENSP00000435199.1:n.409G>T
NM_001166102.1:c.978G>T NP_001159574.1:p.Val326=
NM_007103.3:c.1005G>T NP_009034.2:p.Val335=
NM_001166102.2:c.978G>T NP_001159574.1:p.Val326=
NM_007103.4:c.1005G>T MANE Select NP_009034.2:p.Val335=