Canonical Allele Identifier: CA199656

Gene: NDUFB11

Linked Data

• ClinVar Variation Id: 190302
• ClinVar RCV Id: RCV000170490 ; RCV000240620 ; RCV000346231 ; RCV000763626
• dbSNP Id: rs786205225
• MyVariant Identifiers: chrX:g.47002089G>A (hg19) ; chrX:g.47142690G>A (hg38)
• PubMed: PMID:25772934 ; PMID:28050600

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47142690G>A , CM000685.2:g.47142690G>A	GRCh38
NC_000023.10:g.47002089G>A , CM000685.1:g.47002089G>A	GRCh37
NC_000023.9:g.46887033G>A	NCBI36
NG_012548.1:g.2459G>A
NG_052579.1:g.7521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276062.9:c.255C>T	ENSP00000276062.9:p.Cys85=
ENST00000685599.1:n.720C>T
ENST00000687244.1:c.262C>T	ENSP00000509334.1:p.Arg88Ter
ENST00000688286.1:c.*135C>T	ENSP00000510534.1:n.*135C>T
ENST00000690053.1:c.262C>T	ENSP00000509556.1:p.Arg88Ter
ENST00000690204.1:n.1689C>T
ENST00000692649.1:c.252C>T	ENSP00000510488.1:p.Cys84=
ENST00000377811.4:c.262C>T MANE Select	ENSP00000367042.3:p.Arg88Ter
ENST00000276062.8:c.262C>T	ENSP00000276062.8:p.Arg88Ter
ENST00000377811.3:c.262C>T	ENSP00000367042.3:p.Arg88Ter
NM_001135998.2:c.262C>T	NP_001129470.1:p.Arg88Ter
NM_019056.6:c.262C>T	NP_061929.2:p.Arg88Ter
NM_001135998.3:c.262C>T MANE Select	NP_001129470.1:p.Arg88Ter
NM_019056.7:c.262C>T	NP_061929.2:p.Arg88Ter