Canonical Allele Identifier: CA358298059
Gene: UCP1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.140567934C>G
GRCh37 chr4:g.141489088C>G
Revel Score:
ENST00000262999 (MANE Select) 0.833
gnomAD v4:
chr4-140567934-C-G
Joint Max Group AF 0.00001454 (NFE)
Exomes Max Group AF 0.00001543 (NFE)
ClinVar Allele:
2288287
ClinVar RCV:
RCV004149788
ClinVar Variation:
2298928
dbSNP:
1463588983
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.140567934C>G , CM000666.2:g.140567934C>G GRCh38
NC_000004.11:g.141489088C>G , CM000666.1:g.141489088C>G GRCh37
NC_000004.10:g.141708538C>G NCBI36
NG_012139.1:g.5872G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262999.4:c.170G>C MANE Select ENSP00000262999.3:p.Gly57Ala
ENST00000262999.3:c.170G>C ENSP00000262999.3:p.Gly57Ala
NM_021833.4:c.170G>C NP_068605.1:p.Gly57Ala
XM_005263206.2:c.170G>C XP_005263263.1:p.Gly57Ala
XM_011532228.1:c.170G>C XP_011530530.1:p.Gly57Ala
XM_005263206.3:c.170G>C XP_005263263.1:p.Gly57Ala
XM_011532228.2:c.170G>C XP_011530530.1:p.Gly57Ala
NM_021833.5:c.170G>C MANE Select NP_068605.1:p.Gly57Ala
Search 100 bp 5'
Search 100 bp 3'