Canonical Allele Identifier: CA2692359

Gene: BCHE

Linked Data

• ClinVar Variation Id: 225301
• ClinVar RCV Id: RCV000490265
• dbSNP Id: rs115129687
• ExAC: 3:165547645 C / G
• gnomAD v2: 3-165547645-C-G
• gnomAD v3: 3-165829857-C-G
• gnomAD v4: 3-165829857-C-G
• MyVariant Identifiers: chr3:g.165547645C>G (hg19) ; chr3:g.165829857C>G (hg38)
• PubMed: PMID:1611188 ; PMID:9191541 ; PMID:10404729 ; PMID:11733654

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829857C>G , CM000665.2:g.165829857C>G	GRCh38
NC_000003.11:g.165547645C>G , CM000665.1:g.165547645C>G	GRCh37
NC_000003.10:g.167030339C>G	NCBI36
NG_009031.1:g.12609G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1177G>C MANE Select	ENSP00000264381.3:p.Gly393Arg
ENST00000264381.7:c.1177G>C	ENSP00000264381.3:p.Gly393Arg
ENST00000479451.5:c.107+7457G>C	ENSP00000418325.1:n.107+7457G>C
ENST00000482958.1:c.1177G>C	ENSP00000419804.1:p.Gly393Arg
ENST00000488954.1:c.107+7457G>C	ENSP00000418504.1:n.107+7457G>C
ENST00000497011.5:c.1177G>C	ENSP00000419505.1:p.Gly393Arg
NM_000055.2:c.1177G>C	NP_000046.1:p.Gly393Arg
XM_005247685.1:c.1300G>C	XP_005247742.1:p.Gly434Arg
NM_000055.3:c.1177G>C	NP_000046.1:p.Gly393Arg
NR_137635.1:n.159+7457G>C
NR_137636.1:n.1344G>C
NM_000055.4:c.1177G>C MANE Select	NP_000046.1:p.Gly393Arg
NR_137635.2:n.110+7457G>C
NR_137636.2:n.1295G>C