Canonical Allele Identifier: CA381540578

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378909G>C (hg19) ; chr11:g.67611438G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611438G>C , CM000673.2:g.67611438G>C	GRCh38
NC_000011.9:g.67378909G>C , CM000673.1:g.67378909G>C	GRCh37
NC_000011.8:g.67135485G>C	NCBI36
NG_013353.1:g.9587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.949G>C MANE Select	ENSP00000322450.6:p.Val317Leu
ENST00000647561.1:c.949G>C	ENSP00000497587.1:p.Val317Leu
ENST00000322776.10:c.949G>C	ENSP00000322450.6:p.Val317Leu
ENST00000415352.6:c.928G>C	ENSP00000395368.2:p.Val310Leu
ENST00000526169.1:n.656-84G>C
ENST00000526770.5:n.1232G>C
ENST00000527355.5:c.238G>C	ENSP00000432637.1:p.Val80Leu
ENST00000527923.1:n.291G>C
ENST00000529927.5:c.922G>C	ENSP00000436766.1:p.Val308Leu
ENST00000532303.5:c.646G>C	ENSP00000432015.1:p.Val216Leu
ENST00000533919.5:c.392-39G>C	ENSP00000435199.1:n.392-39G>C
NM_001166102.1:c.922G>C	NP_001159574.1:p.Val308Leu
NM_007103.3:c.949G>C	NP_009034.2:p.Val317Leu
NM_001166102.2:c.922G>C	NP_001159574.1:p.Val308Leu
NM_007103.4:c.949G>C MANE Select	NP_009034.2:p.Val317Leu