Canonical Allele Identifier: CA2739270645

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2859044
• ClinVar RCV Id: RCV003699674

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610372G>T , CM000673.2:g.67610372G>T	GRCh38
NC_000011.9:g.67377843G>T , CM000673.1:g.67377843G>T	GRCh37
NC_000011.8:g.67134419G>T	NCBI36
NG_013353.1:g.8521G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.511-9G>T MANE Select	ENSP00000322450.6:n.511-9G>T
ENST00000647561.1:c.511-9G>T	ENSP00000497587.1:n.511-9G>T
ENST00000322776.10:c.511-9G>T	ENSP00000322450.6:n.511-9G>T
ENST00000415352.6:c.490-9G>T	ENSP00000395368.2:n.490-9G>T
ENST00000526169.1:n.253-9G>T
ENST00000526770.5:n.370-9G>T
ENST00000529867.5:c.475-9G>T	ENSP00000434438.1:n.475-9G>T
ENST00000529927.5:c.484-9G>T	ENSP00000436766.1:n.484-9G>T
ENST00000530638.1:c.394-9G>T	ENSP00000436936.1:n.394-9G>T
ENST00000532244.5:c.208-9G>T	ENSP00000435202.1:n.208-9G>T
ENST00000532303.5:c.208-9G>T	ENSP00000432015.1:n.208-9G>T
ENST00000532343.5:c.208-9G>T	ENSP00000431751.1:n.208-9G>T
ENST00000533075.5:c.490-9G>T	ENSP00000437267.1:n.490-9G>T
NM_001166102.1:c.484-9G>T	NP_001159574.1:n.484-9G>T
NM_007103.3:c.511-9G>T	NP_009034.2:n.511-9G>T
NM_001166102.2:c.484-9G>T	NP_001159574.1:n.484-9G>T
NM_007103.4:c.511-9G>T MANE Select	NP_009034.2:n.511-9G>T