Canonical Allele Identifier: CA1980192526

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1854921334
• gnomAD v4: 11-67611814-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611819dup , CM000673.2:g.67611819dup	GRCh38
NC_000011.9:g.67379290dup , CM000673.1:g.67379290dup	GRCh37
NC_000011.8:g.67135866dup	NCBI36
NG_013353.1:g.9968dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1081-78dup MANE Select	ENSP00000322450.6:n.1081-78dup
ENST00000647561.1:c.1081-78dup	ENSP00000497587.1:n.1081-78dup
ENST00000322776.10:c.1081-78dup	ENSP00000322450.6:n.1081-78dup
ENST00000415352.6:c.1060-78dup	ENSP00000395368.2:n.1060-78dup
ENST00000526169.1:n.704-78dup
ENST00000526770.5:n.1364-78dup
ENST00000527355.5:c.369+250dup	ENSP00000432637.1:n.369+250dup
ENST00000527923.1:n.423-78dup
ENST00000529927.5:c.1054-78dup	ENSP00000436766.1:n.1054-78dup
ENST00000531250.1:n.267dup
ENST00000532303.5:c.778-78dup	ENSP00000432015.1:n.778-78dup
ENST00000533919.5:c.485-78dup	ENSP00000435199.1:n.485-78dup
ENST00000534352.1:n.101dup
NM_001166102.1:c.1054-78dup	NP_001159574.1:n.1054-78dup
NM_007103.3:c.1081-78dup	NP_009034.2:n.1081-78dup
NM_001166102.2:c.1054-78dup	NP_001159574.1:n.1054-78dup
NM_007103.4:c.1081-78dup MANE Select	NP_009034.2:n.1081-78dup