Canonical Allele Identifier: CA224181548

Gene: NDUFV1

Linked Data

• dbSNP Id: rs945953511
• gnomAD v2: 11-67379303-TA-T
• gnomAD v3: 11-67611832-TA-T
• gnomAD v4: 11-67611832-TA-T
• MyVariant Identifiers: chr11:g.67379304del (hg19) ; chr11:g.67611833del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611833del , CM000673.2:g.67611833del	GRCh38
NC_000011.9:g.67379304del , CM000673.1:g.67379304del	GRCh37
NC_000011.8:g.67135880del	NCBI36
NG_013353.1:g.9982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1081-64del MANE Select	ENSP00000322450.6:n.1081-64del
ENST00000647561.1:c.1081-64del	ENSP00000497587.1:n.1081-64del
ENST00000322776.10:c.1081-64del	ENSP00000322450.6:n.1081-64del
ENST00000415352.6:c.1060-64del	ENSP00000395368.2:n.1060-64del
ENST00000526169.1:n.704-64del
ENST00000526770.5:n.1364-64del
ENST00000527355.5:c.369+264del	ENSP00000432637.1:n.369+264del
ENST00000527923.1:n.423-64del
ENST00000529927.5:c.1054-64del	ENSP00000436766.1:n.1054-64del
ENST00000531250.1:n.281del
ENST00000532303.5:c.778-64del	ENSP00000432015.1:n.778-64del
ENST00000533919.5:c.485-64del	ENSP00000435199.1:n.485-64del
ENST00000534352.1:n.115del
NM_001166102.1:c.1054-64del	NP_001159574.1:n.1054-64del
NM_007103.3:c.1081-64del	NP_009034.2:n.1081-64del
NM_001166102.2:c.1054-64del	NP_001159574.1:n.1054-64del
NM_007103.4:c.1081-64del MANE Select	NP_009034.2:n.1081-64del