Canonical Allele Identifier: CA381540497

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378893G>C (hg19) ; chr11:g.67611422G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611422G>C , CM000673.2:g.67611422G>C	GRCh38
NC_000011.9:g.67378893G>C , CM000673.1:g.67378893G>C	GRCh37
NC_000011.8:g.67135469G>C	NCBI36
NG_013353.1:g.9571G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.933G>C MANE Select	ENSP00000322450.6:p.Trp311Cys
ENST00000647561.1:c.933G>C	ENSP00000497587.1:p.Trp311Cys
ENST00000322776.10:c.933G>C	ENSP00000322450.6:p.Trp311Cys
ENST00000415352.6:c.912G>C	ENSP00000395368.2:p.Trp304Cys
ENST00000526169.1:n.656-100G>C
ENST00000526770.5:n.1216G>C
ENST00000527355.5:c.222G>C	ENSP00000432637.1:p.Trp74Cys
ENST00000527923.1:n.275G>C
ENST00000529927.5:c.906G>C	ENSP00000436766.1:p.Trp302Cys
ENST00000532303.5:c.630G>C	ENSP00000432015.1:p.Trp210Cys
ENST00000533919.5:c.392-55G>C	ENSP00000435199.1:n.392-55G>C
NM_001166102.1:c.906G>C	NP_001159574.1:p.Trp302Cys
NM_007103.3:c.933G>C	NP_009034.2:p.Trp311Cys
NM_001166102.2:c.906G>C	NP_001159574.1:p.Trp302Cys
NM_007103.4:c.933G>C MANE Select	NP_009034.2:p.Trp311Cys