Canonical Allele Identifier: CA2692418
Gene: BCHE HGNC NCBI
COSMIC:
COSM5037936 (not active)
MyVariant.info:
GRCh38 chr3:g.165830185C>G
GRCh37 chr3:g.165547973C>G
Revel Score:
ENST00000264381 (MANE Select) 0.069
gnomAD v2:
3:165547973 C / G
gnomAD v3:
3:165830185 C / G
gnomAD v4:
chr3-165830185-C-G
Joint Max Group AF 0.05754785 (AFR)
Genomes Max Group AF 0.0537456 (AFR)
Exomes Max Group AF 0.06093289 (AFR)
ClinVar RCV:
RCV000251520
RCV000666412
ClinVar Variation:
254777
dbSNP:
16849700
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830185C>G , CM000665.2:g.165830185C>G GRCh38
NC_000003.11:g.165547973C>G , CM000665.1:g.165547973C>G GRCh37
NC_000003.10:g.167030667C>G NCBI36
NG_009031.1:g.12281G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.849G>C MANE Select ENSP00000264381.3:p.Glu283Asp
ENST00000264381.7:c.849G>C ENSP00000264381.3:p.Glu283Asp
ENST00000479451.5:c.107+7129G>C ENSP00000418325.1:n.107+7129G>C
ENST00000482958.1:c.849G>C ENSP00000419804.1:p.Glu283Asp
ENST00000488954.1:c.107+7129G>C ENSP00000418504.1:n.107+7129G>C
ENST00000497011.5:c.849G>C ENSP00000419505.1:p.Glu283Asp
NM_000055.2:c.849G>C NP_000046.1:p.Glu283Asp
XM_005247685.1:c.972G>C XP_005247742.1:p.Glu324Asp
NM_000055.3:c.849G>C NP_000046.1:p.Glu283Asp
NR_137635.1:n.159+7129G>C
NR_137636.1:n.1016G>C
NM_000055.4:c.849G>C MANE Select NP_000046.1:p.Glu283Asp
NR_137635.2:n.110+7129G>C
NR_137636.2:n.967G>C
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