Canonical Allele Identifier: CA381540874

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378964T>C (hg19) ; chr11:g.67611493T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611493T>C , CM000673.2:g.67611493T>C	GRCh38
NC_000011.9:g.67378964T>C , CM000673.1:g.67378964T>C	GRCh37
NC_000011.8:g.67135540T>C	NCBI36
NG_013353.1:g.9642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1004T>C MANE Select	ENSP00000322450.6:p.Val335Ala
ENST00000647561.1:c.1004T>C	ENSP00000497587.1:p.Val335Ala
ENST00000322776.10:c.1004T>C	ENSP00000322450.6:p.Val335Ala
ENST00000415352.6:c.983T>C	ENSP00000395368.2:p.Val328Ala
ENST00000526169.1:n.656-29T>C
ENST00000526770.5:n.1287T>C
ENST00000527355.5:c.293T>C	ENSP00000432637.1:p.Val98Ala
ENST00000527923.1:n.346T>C
ENST00000529927.5:c.977T>C	ENSP00000436766.1:p.Val326Ala
ENST00000532303.5:c.701T>C	ENSP00000432015.1:p.Val234Ala
ENST00000533919.5:c.408T>C	ENSP00000435199.1:n.408T>C
NM_001166102.1:c.977T>C	NP_001159574.1:p.Val326Ala
NM_007103.3:c.1004T>C	NP_009034.2:p.Val335Ala
NM_001166102.2:c.977T>C	NP_001159574.1:p.Val326Ala
NM_007103.4:c.1004T>C MANE Select	NP_009034.2:p.Val335Ala