Canonical Allele Identifier: CA381540468

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378885G>T (hg19) ; chr11:g.67611414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611414G>T , CM000673.2:g.67611414G>T	GRCh38
NC_000011.9:g.67378885G>T , CM000673.1:g.67378885G>T	GRCh37
NC_000011.8:g.67135461G>T	NCBI36
NG_013353.1:g.9563G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.925G>T MANE Select	ENSP00000322450.6:p.Gly309Cys
ENST00000647561.1:c.925G>T	ENSP00000497587.1:p.Gly309Cys
ENST00000322776.10:c.925G>T	ENSP00000322450.6:p.Gly309Cys
ENST00000415352.6:c.904G>T	ENSP00000395368.2:p.Gly302Cys
ENST00000526169.1:n.656-108G>T
ENST00000526770.5:n.1208G>T
ENST00000527355.5:c.214G>T	ENSP00000432637.1:p.Gly72Cys
ENST00000527923.1:n.267G>T
ENST00000529927.5:c.898G>T	ENSP00000436766.1:p.Gly300Cys
ENST00000532303.5:c.622G>T	ENSP00000432015.1:p.Gly208Cys
ENST00000533919.5:c.392-63G>T	ENSP00000435199.1:n.392-63G>T
NM_001166102.1:c.898G>T	NP_001159574.1:p.Gly300Cys
NM_007103.3:c.925G>T	NP_009034.2:p.Gly309Cys
NM_001166102.2:c.898G>T	NP_001159574.1:p.Gly300Cys
NM_007103.4:c.925G>T MANE Select	NP_009034.2:p.Gly309Cys