Canonical Allele Identifier: CA381540817

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67611481-T-C
• MyVariant Identifiers: chr11:g.67378952T>C (hg19) ; chr11:g.67611481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611481T>C , CM000673.2:g.67611481T>C	GRCh38
NC_000011.9:g.67378952T>C , CM000673.1:g.67378952T>C	GRCh37
NC_000011.8:g.67135528T>C	NCBI36
NG_013353.1:g.9630T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.992T>C MANE Select	ENSP00000322450.6:p.Val331Ala
ENST00000647561.1:c.992T>C	ENSP00000497587.1:p.Val331Ala
ENST00000322776.10:c.992T>C	ENSP00000322450.6:p.Val331Ala
ENST00000415352.6:c.971T>C	ENSP00000395368.2:p.Val324Ala
ENST00000526169.1:n.656-41T>C
ENST00000526770.5:n.1275T>C
ENST00000527355.5:c.281T>C	ENSP00000432637.1:p.Val94Ala
ENST00000527923.1:n.334T>C
ENST00000529927.5:c.965T>C	ENSP00000436766.1:p.Val322Ala
ENST00000532303.5:c.689T>C	ENSP00000432015.1:p.Val230Ala
ENST00000533919.5:c.396T>C	ENSP00000435199.1:p.Cys132=
NM_001166102.1:c.965T>C	NP_001159574.1:p.Val322Ala
NM_007103.3:c.992T>C	NP_009034.2:p.Val331Ala
NM_001166102.2:c.965T>C	NP_001159574.1:p.Val322Ala
NM_007103.4:c.992T>C MANE Select	NP_009034.2:p.Val331Ala