Canonical Allele Identifier: CA10631385

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 305748
• ClinVar RCV Id: RCV000291492 ; RCV000343621 ; RCV003708510
• dbSNP Id: rs886048589
• gnomAD v3: 11-67610476-G-A
• gnomAD v4: 11-67610476-G-A
• MyVariant Identifiers: chr11:g.67377947G>A (hg19) ; chr11:g.67610476G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610476G>A , CM000673.2:g.67610476G>A	GRCh38
NC_000011.9:g.67377947G>A , CM000673.1:g.67377947G>A	GRCh37
NC_000011.8:g.67134523G>A	NCBI36
NG_013353.1:g.8625G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.606G>A MANE Select	ENSP00000322450.6:p.Gly202=
ENST00000647561.1:c.606G>A	ENSP00000497587.1:p.Gly202=
ENST00000322776.10:c.606G>A	ENSP00000322450.6:p.Gly202=
ENST00000415352.6:c.585G>A	ENSP00000395368.2:p.Gly195=
ENST00000526169.1:n.348G>A
ENST00000526770.5:n.465G>A
ENST00000529927.5:c.579G>A	ENSP00000436766.1:p.Gly193=
ENST00000532244.5:c.303G>A	ENSP00000435202.1:p.Gly101=
ENST00000532303.5:c.303G>A	ENSP00000432015.1:p.Gly101=
ENST00000533919.5:c.84G>A	ENSP00000435199.1:p.Gly28=
NM_001166102.1:c.579G>A	NP_001159574.1:p.Gly193=
NM_007103.3:c.606G>A	NP_009034.2:p.Gly202=
NM_001166102.2:c.579G>A	NP_001159574.1:p.Gly193=
NM_007103.4:c.606G>A MANE Select	NP_009034.2:p.Gly202=