Canonical Allele Identifier: CA2614647380

Gene: NDUFV1

Linked Data

• dbSNP Id: rs111437532
• gnomAD v4: 11-67610337-C-CTGGGCTGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610347_67610357dup , CM000673.2:g.67610347_67610357dup	GRCh38
NC_000011.9:g.67377818_67377828dup , CM000673.1:g.67377818_67377828dup	GRCh37
NC_000011.8:g.67134394_67134404dup	NCBI36
NG_013353.1:g.8496_8506dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.511-34_511-24dup MANE Select	ENSP00000322450.6:n.511-34_511-24dup
ENST00000647561.1:c.511-34_511-24dup	ENSP00000497587.1:n.511-34_511-24dup
ENST00000322776.10:c.511-34_511-24dup	ENSP00000322450.6:n.511-34_511-24dup
ENST00000415352.6:c.490-34_490-24dup	ENSP00000395368.2:n.490-34_490-24dup
ENST00000526169.1:n.253-34_253-24dup
ENST00000526770.5:n.370-34_370-24dup
ENST00000529867.5:c.475-34_475-24dup	ENSP00000434438.1:n.475-34_475-24dup
ENST00000529927.5:c.484-34_484-24dup	ENSP00000436766.1:n.484-34_484-24dup
ENST00000530638.1:c.394-34_394-24dup	ENSP00000436936.1:n.394-34_394-24dup
ENST00000532244.5:c.208-34_208-24dup	ENSP00000435202.1:n.208-34_208-24dup
ENST00000532303.5:c.208-34_208-24dup	ENSP00000432015.1:n.208-34_208-24dup
ENST00000532343.5:c.208-34_208-24dup	ENSP00000431751.1:n.208-34_208-24dup
ENST00000533075.5:c.490-34_490-24dup	ENSP00000437267.1:n.490-34_490-24dup
NM_001166102.1:c.484-34_484-24dup	NP_001159574.1:n.484-34_484-24dup
NM_007103.3:c.511-34_511-24dup	NP_009034.2:n.511-34_511-24dup
NM_001166102.2:c.484-34_484-24dup	NP_001159574.1:n.484-34_484-24dup
NM_007103.4:c.511-34_511-24dup MANE Select	NP_009034.2:n.511-34_511-24dup