Canonical Allele Identifier: CA3086879
Gene: UCP1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.140568653A>G
GRCh37 chr4:g.141489807A>G
Revel Score:
ENST00000262999 (MANE Select) 0.540
gnomAD v2:
4:141489807 A / G
gnomAD v3:
4:140568653 A / G
gnomAD v4:
chr4-140568653-A-G
Joint Max Group AF 0.00005547 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00005625 (NFE)
ClinVar RCV:
RCV004126067
ClinVar Variation:
2272384
dbSNP:
370861057
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.140568653A>G , CM000666.2:g.140568653A>G GRCh38
NC_000004.11:g.141489807A>G , CM000666.1:g.141489807A>G GRCh37
NC_000004.10:g.141709257A>G NCBI36
NG_012139.1:g.5153T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262999.4:c.77T>C MANE Select ENSP00000262999.3:p.Leu26Ser
ENST00000262999.3:c.77T>C ENSP00000262999.3:p.Leu26Ser
NM_021833.4:c.77T>C NP_068605.1:p.Leu26Ser
XM_005263206.2:c.77T>C XP_005263263.1:p.Leu26Ser
XM_011532228.1:c.77T>C XP_011530530.1:p.Leu26Ser
XM_005263206.3:c.77T>C XP_005263263.1:p.Leu26Ser
XM_011532228.2:c.77T>C XP_011530530.1:p.Leu26Ser
NM_021833.5:c.77T>C MANE Select NP_068605.1:p.Leu26Ser
Search 100 bp 5'
Search 100 bp 3'