Canonical Allele Identifier: CA122969
Gene: BCHE HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.165829962A>T
GRCh37 chr3:g.165547750A>T
Revel Score:
ENST00000264381 (MANE Select) 0.365
gnomAD v2:
3:165547750 A / T
gnomAD v3:
3:165829962 A / T
gnomAD v4:
chr3-165829962-A-T
Joint Max Group AF 0.00230612 (EAS)
Genomes Max Group AF 0.00038018 (EAS)
Exomes Max Group AF 0.00249102 (EAS)
ClinVar RCV:
RCV000014130
RCV000665725
ClinVar Variation:
13226
dbSNP:
121918557
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829962A>T , CM000665.2:g.165829962A>T GRCh38
NC_000003.11:g.165547750A>T , CM000665.1:g.165547750A>T GRCh37
NC_000003.10:g.167030444A>T NCBI36
NG_009031.1:g.12504T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1072T>A MANE Select ENSP00000264381.3:p.Leu358Ile
ENST00000264381.7:c.1072T>A ENSP00000264381.3:p.Leu358Ile
ENST00000479451.5:c.107+7352T>A ENSP00000418325.1:n.107+7352T>A
ENST00000482958.1:c.1072T>A ENSP00000419804.1:p.Leu358Ile
ENST00000488954.1:c.107+7352T>A ENSP00000418504.1:n.107+7352T>A
ENST00000497011.5:c.1072T>A ENSP00000419505.1:p.Leu358Ile
NM_000055.2:c.1072T>A NP_000046.1:p.Leu358Ile
XM_005247685.1:c.1195T>A XP_005247742.1:p.Leu399Ile
NM_000055.3:c.1072T>A NP_000046.1:p.Leu358Ile
NR_137635.1:n.159+7352T>A
NR_137636.1:n.1239T>A
NM_000055.4:c.1072T>A MANE Select NP_000046.1:p.Leu358Ile
NR_137635.2:n.110+7352T>A
NR_137636.2:n.1190T>A
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