Canonical Allele Identifier: CA1139659067
Gene: UQCRQ HGNC NCBI

Linked Data

ClinVar Variation Id: 905150
ClinVar RCV Id: RCV001153502
dbSNP Id: rs1759703978
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868702A>C , CM000667.2:g.132868702A>C GRCh38
NC_000005.9:g.132204394A>C , CM000667.1:g.132204394A>C GRCh37
NC_000005.8:g.132232293A>C NCBI36
NG_012221.1:g.7076A>C
NG_047051.1:g.3183T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1120A>C MANE Select ENSP00000367939.3:n.*1120A>C
NM_014402.4:c.*1120A>C NP_055217.2:n.*1120A>C
NM_014402.5:c.*1120A>C MANE Select NP_055217.2:n.*1120A>C
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