Canonical Allele Identifier: CA9118872

Gene: NDUFA11

Linked Data

• ClinVar Variation Id: 330233
• ClinVar RCV Id: RCV000264047
• dbSNP Id: rs755637853
• ExAC: 19:5894682 GAC / G
• gnomAD v2: 19-5894682-GAC-G
• gnomAD v3: 19-5894671-GAC-G
• gnomAD v4: 19-5894671-GAC-G
• COSMIC: COSN508341 ; COSN508342
• MyVariant Identifiers: chr19:g.5894683_5894684del (hg19) ; chr19:g.5894672_5894673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5894681_5894682del , CM000681.2:g.5894681_5894682del	GRCh38
NC_000019.9:g.5894692_5894693del , CM000681.1:g.5894692_5894693del	GRCh37
NC_000019.8:g.5845692_5845693del	NCBI36
NG_027808.1:g.14341_14342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418389.6:c.314-1383_314-1382del	ENSP00000389160.1:n.314-1383_314-1382del
ENST00000585661.1:c.308+1780_308+1781del
ENST00000586349.5:c.383+1780_383+1781del
ENST00000592091.5:c.313+1780_313+1781del	ENSP00000465499.1:n.313+1780_313+1781del
NM_001193375.1:c.314-1383_314-1382del	NP_001180304.1:n.314-1383_314-1382del
NM_175614.4:c.*69_*70del	NP_783313.1:n.*69_*70del
NR_034166.2:n.920_921del
NM_001193375.2:c.314-1383_314-1382del	NP_001180304.1:n.314-1383_314-1382del
NM_001193375.3:c.314-1383_314-1382del	NP_001180304.1:n.314-1383_314-1382del