Canonical Allele Identifier: CA2692306
Gene: BCHE HGNC NCBI
ClinVar RCV:
RCV000779399
ClinVar Variation:
632412
dbSNP:
200998515
gnomAD v2:
3:165547360 C / T
gnomAD v3:
3:165829572 C / T
gnomAD v4:
chr3-165829572-C-T
Joint Max Group AF 0.00011838 (SAS)
Exomes Max Group AF 0.00011549 (SAS)
MyVariant.info:
GRCh38 chr3:g.165829572C>T
GRCh37 chr3:g.165547360C>T
Revel Score:
ENST00000264381 (MANE Select) 0.952
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829572C>T , CM000665.2:g.165829572C>T GRCh38
NC_000003.11:g.165547360C>T , CM000665.1:g.165547360C>T GRCh37
NC_000003.10:g.167030054C>T NCBI36
NG_009031.1:g.12894G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1462G>A MANE Select ENSP00000264381.3:p.Glu488Lys
ENST00000264381.7:c.1462G>A ENSP00000264381.3:p.Glu488Lys
ENST00000479451.5:c.107+7742G>A ENSP00000418325.1:n.107+7742G>A
ENST00000482958.1:c.1462G>A ENSP00000419804.1:p.Glu488Lys
ENST00000488954.1:c.107+7742G>A ENSP00000418504.1:n.107+7742G>A
ENST00000497011.5:c.1462G>A ENSP00000419505.1:p.Glu488Lys
NM_000055.2:c.1462G>A NP_000046.1:p.Glu488Lys
XM_005247685.1:c.1585G>A XP_005247742.1:p.Glu529Lys
NM_000055.3:c.1462G>A NP_000046.1:p.Glu488Lys
NR_137635.1:n.159+7742G>A
NR_137636.1:n.1629G>A
NM_000055.4:c.1462G>A MANE Select NP_000046.1:p.Glu488Lys
NR_137635.2:n.110+7742G>A
NR_137636.2:n.1580G>A
Search 100 bp 5'
Search 100 bp 3'