Canonical Allele Identifier: CA6143366

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2287933
• ClinVar RCV Id: RCV002832127
• dbSNP Id: rs374128188
• ExAC: 11:67378991 A / T
• gnomAD v2: 11-67378991-A-T
• gnomAD v3: 11-67611520-A-T
• gnomAD v4: 11-67611520-A-T
• MyVariant Identifiers: chr11:g.67378991A>T (hg19) ; chr11:g.67611520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611520A>T , CM000673.2:g.67611520A>T	GRCh38
NC_000011.9:g.67378991A>T , CM000673.1:g.67378991A>T	GRCh37
NC_000011.8:g.67135567A>T	NCBI36
NG_013353.1:g.9669A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1031A>T MANE Select	ENSP00000322450.6:p.Gln344Leu
ENST00000647561.1:c.1031A>T	ENSP00000497587.1:p.Gln344Leu
ENST00000322776.10:c.1031A>T	ENSP00000322450.6:p.Gln344Leu
ENST00000415352.6:c.1010A>T	ENSP00000395368.2:p.Gln337Leu
ENST00000526169.1:n.656-2A>T
ENST00000526770.5:n.1314A>T
ENST00000527355.5:c.320A>T	ENSP00000432637.1:p.Gln107Leu
ENST00000527923.1:n.373A>T
ENST00000529927.5:c.1004A>T	ENSP00000436766.1:p.Gln335Leu
ENST00000532303.5:c.728A>T	ENSP00000432015.1:p.Gln243Leu
ENST00000533919.5:c.435A>T	ENSP00000435199.1:n.435A>T
NM_001166102.1:c.1004A>T	NP_001159574.1:p.Gln335Leu
NM_007103.3:c.1031A>T	NP_009034.2:p.Gln344Leu
NM_001166102.2:c.1004A>T	NP_001159574.1:p.Gln335Leu
NM_007103.4:c.1031A>T MANE Select	NP_009034.2:p.Gln344Leu