Canonical Allele Identifier: CA2692571
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 2484556
ClinVar RCV Id: RCV003217059
dbSNP Id: rs773207113
ExAC: 3:165548751 C / T
gnomAD v2: 3-165548751-C-T
gnomAD v3: 3-165830963-C-T
gnomAD v4: 3-165830963-C-T
COSMIC: COSM3203033
MyVariant Identifiers: chr3:g.165548751C>T (hg19) chr3:g.165830963C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830963C>T , CM000665.2:g.165830963C>T GRCh38
NC_000003.11:g.165548751C>T , CM000665.1:g.165548751C>T GRCh37
NC_000003.10:g.167031445C>T NCBI36
NG_009031.1:g.11503G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.71G>A MANE Select ENSP00000264381.3:p.Gly24Glu
ENST00000264381.7:c.71G>A ENSP00000264381.3:p.Gly24Glu
ENST00000479451.5:c.107+6351G>A ENSP00000418325.1:n.107+6351G>A
ENST00000482958.1:c.71G>A ENSP00000419804.1:p.Gly24Glu
ENST00000488954.1:c.107+6351G>A ENSP00000418504.1:n.107+6351G>A
ENST00000497011.5:c.71G>A ENSP00000419505.1:p.Gly24Glu
NM_000055.2:c.71G>A NP_000046.1:p.Gly24Glu
XM_005247685.1:c.194G>A XP_005247742.1:p.Gly65Glu
NM_000055.3:c.71G>A NP_000046.1:p.Gly24Glu
NR_137635.1:n.159+6351G>A
NR_137636.1:n.238G>A
NM_000055.4:c.71G>A MANE Select NP_000046.1:p.Gly24Glu
NR_137635.2:n.110+6351G>A
NR_137636.2:n.189G>A
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