Canonical Allele Identifier: CA324685

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1555025756
• MyVariant Identifiers: chr11:g.67378910T>C (hg19) ; chr11:g.67611439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611439T>C , CM000673.2:g.67611439T>C	GRCh38
NC_000011.9:g.67378910T>C , CM000673.1:g.67378910T>C	GRCh37
NC_000011.8:g.67135486T>C	NCBI36
NG_013353.1:g.9588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.950T>C MANE Select	ENSP00000322450.6:p.Val317Ala
ENST00000647561.1:c.950T>C	ENSP00000497587.1:p.Val317Ala
ENST00000322776.10:c.950T>C	ENSP00000322450.6:p.Val317Ala
ENST00000415352.6:c.929T>C	ENSP00000395368.2:p.Val310Ala
ENST00000526169.1:n.656-83T>C
ENST00000526770.5:n.1233T>C
ENST00000527355.5:c.239T>C	ENSP00000432637.1:p.Val80Ala
ENST00000527923.1:n.292T>C
ENST00000529927.5:c.923T>C	ENSP00000436766.1:p.Val308Ala
ENST00000532303.5:c.647T>C	ENSP00000432015.1:p.Val216Ala
ENST00000533919.5:c.392-38T>C	ENSP00000435199.1:n.392-38T>C
NM_001166102.1:c.923T>C	NP_001159574.1:p.Val308Ala
NM_007103.3:c.950T>C	NP_009034.2:p.Val317Ala
NM_001166102.2:c.923T>C	NP_001159574.1:p.Val308Ala
NM_007103.4:c.950T>C MANE Select	NP_009034.2:p.Val317Ala