Canonical Allele Identifier: CA2692592
Gene: BCHE HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.165837337C>T
GRCh37 chr3:g.165555125C>T
gnomAD v2:
3:165555125 C / T
gnomAD v3:
3:165837337 C / T
gnomAD v4:
chr3-165837337-C-T
Joint Max Group AF 0.07712649 (NFE)
Genomes Max Group AF 0.07694233 (NFE)
Exomes Max Group AF 0.07702762 (NFE)
ClinVar RCV:
RCV001150858
ClinVar Variation:
903492
dbSNP:
1126680
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165837337C>T , CM000665.2:g.165837337C>T GRCh38
NC_000003.11:g.165555125C>T , CM000665.1:g.165555125C>T GRCh37
NC_000003.10:g.167037819C>T NCBI36
NG_009031.1:g.5129G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.-32G>A MANE Select ENSP00000264381.3:n.-32G>A
ENST00000264381.7:c.-32G>A ENSP00000264381.3:n.-32G>A
ENST00000479451.5:c.84G>A ENSP00000418325.1:p.Leu28=
ENST00000482958.1:c.-32G>A ENSP00000419804.1:n.-32G>A
ENST00000488954.1:c.84G>A ENSP00000418504.1:p.Leu28=
ENST00000497011.5:c.-32G>A ENSP00000419505.1:n.-32G>A
NM_000055.2:c.-32G>A NP_000046.1:n.-32G>A
XM_005247685.1:c.92G>A XP_005247742.1:p.Cys31Tyr
NM_000055.3:c.-32G>A NP_000046.1:n.-32G>A
NR_137635.1:n.136G>A
NR_137636.1:n.136G>A
NM_000055.4:c.-32G>A MANE Select NP_000046.1:n.-32G>A
NR_137635.2:n.87G>A
NR_137636.2:n.87G>A
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