Canonical Allele Identifier: CA6181424
Gene: UCP3 HGNC NCBI
COSMIC:
COSM6353990 (not active)
MyVariant.info:
GRCh38 chr11:g.74004497G>A
GRCh37 chr11:g.73715542G>A
gnomAD v2:
11:73715542 G / A
gnomAD v3:
11:74004497 G / A
gnomAD v4:
chr11-74004497-G-A
Joint Max Group AF 0.81307314 (AFR)
Genomes Max Group AF 0.80759862 (AFR)
Exomes Max Group AF 0.81486323 (AFR)
ClinVar RCV:
RCV001595779
RCV003980742
ClinVar Variation:
1221961
dbSNP:
2075577
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74004497G>A , CM000673.2:g.74004497G>A GRCh38
NC_000011.9:g.73715542G>A , CM000673.1:g.73715542G>A GRCh37
NC_000011.8:g.73393190G>A NCBI36
NG_011515.1:g.9741C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314032.9:c.630C>T MANE Select ENSP00000323740.4:p.Tyr210=
ENST00000314032.8:c.630C>T ENSP00000323740.4:p.Tyr210=
ENST00000426995.2:c.630C>T ENSP00000392143.2:p.Tyr210=
NM_003356.3:c.630C>T NP_003347.1:p.Tyr210=
NM_022803.2:c.630C>T NP_073714.1:p.Tyr210=
XR_950298.1:n.1768+8463G>A
NM_003356.4:c.630C>T MANE Select NP_003347.1:p.Tyr210=
NM_022803.3:c.630C>T NP_073714.1:p.Tyr210=
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