Canonical Allele Identifier: CA6143339

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 1645771
• ClinVar RCV Id: RCV002148690
• dbSNP Id: rs145999490
• ExAC: 11:67378887 C / T
• gnomAD v2: 11-67378887-C-T
• gnomAD v3: 11-67611416-C-T
• gnomAD v4: 11-67611416-C-T
• MyVariant Identifiers: chr11:g.67378887C>T (hg19) ; chr11:g.67611416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611416C>T , CM000673.2:g.67611416C>T	GRCh38
NC_000011.9:g.67378887C>T , CM000673.1:g.67378887C>T	GRCh37
NC_000011.8:g.67135463C>T	NCBI36
NG_013353.1:g.9565C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.927C>T MANE Select	ENSP00000322450.6:p.Gly309=
ENST00000647561.1:c.927C>T	ENSP00000497587.1:p.Gly309=
ENST00000322776.10:c.927C>T	ENSP00000322450.6:p.Gly309=
ENST00000415352.6:c.906C>T	ENSP00000395368.2:p.Gly302=
ENST00000526169.1:n.656-106C>T
ENST00000526770.5:n.1210C>T
ENST00000527355.5:c.216C>T	ENSP00000432637.1:p.Gly72=
ENST00000527923.1:n.269C>T
ENST00000529927.5:c.900C>T	ENSP00000436766.1:p.Gly300=
ENST00000532303.5:c.624C>T	ENSP00000432015.1:p.Gly208=
ENST00000533919.5:c.392-61C>T	ENSP00000435199.1:n.392-61C>T
NM_001166102.1:c.900C>T	NP_001159574.1:p.Gly300=
NM_007103.3:c.927C>T	NP_009034.2:p.Gly309=
NM_001166102.2:c.900C>T	NP_001159574.1:p.Gly300=
NM_007103.4:c.927C>T MANE Select	NP_009034.2:p.Gly309=