Canonical Allele Identifier: CA118899
Gene: UCP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 7576
ClinVar RCV Id: RCV000008012 RCV000008013
dbSNP Id: rs2229707
ExAC: 11:73717247 C / T
gnomAD v2: 11-73717247-C-T
gnomAD v3: 11-74006202-C-T
gnomAD v4: 11-74006202-C-T
MyVariant Identifiers: chr11:g.73717247C>T (hg19) chr11:g.74006202C>T (hg38)
PubMed: PMID:9769326
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74006202C>T , CM000673.2:g.74006202C>T GRCh38
NC_000011.9:g.73717247C>T , CM000673.1:g.73717247C>T GRCh37
NC_000011.8:g.73394895C>T NCBI36
NG_011515.1:g.8036G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000314032.9:c.304G>A MANE Select ENSP00000323740.4:p.Val102Ile
ENST00000314032.8:c.304G>A ENSP00000323740.4:p.Val102Ile
ENST00000426995.2:c.304G>A ENSP00000392143.2:p.Val102Ile
NM_003356.3:c.304G>A NP_003347.1:p.Val102Ile
NM_022803.2:c.304G>A NP_073714.1:p.Val102Ile
XR_950298.1:n.1768+10168C>T
NM_003356.4:c.304G>A MANE Select NP_003347.1:p.Val102Ile
NM_022803.3:c.304G>A NP_073714.1:p.Val102Ile
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