Canonical Allele Identifier: CA6143242

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2187115
• ClinVar RCV Id: RCV002611353
• dbSNP Id: rs553712971
• ExAC: 11:67378031 C / T
• gnomAD v2: 11-67378031-C-T
• gnomAD v3: 11-67610560-C-T
• gnomAD v4: 11-67610560-C-T
• MyVariant Identifiers: chr11:g.67378031C>T (hg19) ; chr11:g.67610560C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610560C>T , CM000673.2:g.67610560C>T	GRCh38
NC_000011.9:g.67378031C>T , CM000673.1:g.67378031C>T	GRCh37
NC_000011.8:g.67134607C>T	NCBI36
NG_013353.1:g.8709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.690C>T MANE Select	ENSP00000322450.6:p.Pro230=
ENST00000647561.1:c.690C>T	ENSP00000497587.1:p.Pro230=
ENST00000322776.10:c.690C>T	ENSP00000322450.6:p.Pro230=
ENST00000415352.6:c.669C>T	ENSP00000395368.2:p.Pro223=
ENST00000526169.1:n.432C>T
ENST00000526770.5:n.549C>T
ENST00000529927.5:c.663C>T	ENSP00000436766.1:p.Pro221=
ENST00000532244.5:c.387C>T	ENSP00000435202.1:p.Pro129=
ENST00000532303.5:c.387C>T	ENSP00000432015.1:p.Pro129=
ENST00000533919.5:c.168C>T	ENSP00000435199.1:p.Pro56=
NM_001166102.1:c.663C>T	NP_001159574.1:p.Pro221=
NM_007103.3:c.690C>T	NP_009034.2:p.Pro230=
NM_001166102.2:c.663C>T	NP_001159574.1:p.Pro221=
NM_007103.4:c.690C>T MANE Select	NP_009034.2:p.Pro230=