Canonical Allele Identifier: CA13388158
Gene: UCP3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.74002397T>C
GRCh37 chr11:g.73713442T>C
gnomAD v2:
11:73713442 T / C
gnomAD v3:
11:74002397 T / C
gnomAD v4:
chr11-74002397-T-C
Joint Max Group AF 0.65453515 (AFR)
Genomes Max Group AF 0.65450199 (AFR)
Exomes Max Group AF 0.40226976 (NFE)
dbSNP:
1726745
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74002397T>C , CM000673.2:g.74002397T>C GRCh38
NC_000011.9:g.73713442T>C , CM000673.1:g.73713442T>C GRCh37
NC_000011.8:g.73391090T>C NCBI36
NG_011515.1:g.11841A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314032.9:c.825-871A>G MANE Select ENSP00000323740.4:n.825-871A>G
ENST00000314032.8:c.825-871A>G ENSP00000323740.4:n.825-871A>G
NM_003356.3:c.825-871A>G NP_003347.1:n.825-871A>G
XR_950298.1:n.1768+6363T>C
NM_003356.4:c.825-871A>G MANE Select NP_003347.1:n.825-871A>G
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