Canonical Allele Identifier: CA475412790

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1282672354
• gnomAD v2: 11-67377986-C-T
• gnomAD v4: 11-67610515-C-T
• MyVariant Identifiers: chr11:g.67377986C>T (hg19) ; chr11:g.67610515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610515C>T , CM000673.2:g.67610515C>T	GRCh38
NC_000011.9:g.67377986C>T , CM000673.1:g.67377986C>T	GRCh37
NC_000011.8:g.67134562C>T	NCBI36
NG_013353.1:g.8664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.645C>T MANE Select	ENSP00000322450.6:p.Ser215=
ENST00000647561.1:c.645C>T	ENSP00000497587.1:p.Ser215=
ENST00000322776.10:c.645C>T	ENSP00000322450.6:p.Ser215=
ENST00000415352.6:c.624C>T	ENSP00000395368.2:p.Ser208=
ENST00000526169.1:n.387C>T
ENST00000526770.5:n.504C>T
ENST00000529927.5:c.618C>T	ENSP00000436766.1:p.Ser206=
ENST00000532244.5:c.342C>T	ENSP00000435202.1:p.Ser114=
ENST00000532303.5:c.342C>T	ENSP00000432015.1:p.Ser114=
ENST00000533919.5:c.123C>T	ENSP00000435199.1:p.Ser41=
NM_001166102.1:c.618C>T	NP_001159574.1:p.Ser206=
NM_007103.3:c.645C>T	NP_009034.2:p.Ser215=
NM_001166102.2:c.618C>T	NP_001159574.1:p.Ser206=
NM_007103.4:c.645C>T MANE Select	NP_009034.2:p.Ser215=