Canonical Allele Identifier: CA2692264

Gene: BCHE

Linked Data

• ClinVar Variation Id: 3133360
• ClinVar RCV Id: RCV004426253
• dbSNP Id: rs200768861
• ExAC: 3:165504085 G / C
• gnomAD v2: 3-165504085-G-C
• gnomAD v3: 3-165786297-G-C
• gnomAD v4: 3-165786297-G-C
• COSMIC: COSM3945100
• MyVariant Identifiers: chr3:g.165504085G>C (hg19) ; chr3:g.165786297G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786297G>C , CM000665.2:g.165786297G>C	GRCh38
NC_000003.11:g.165504085G>C , CM000665.1:g.165504085G>C	GRCh37
NC_000003.10:g.166986779G>C	NCBI36
NG_009031.1:g.56169C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1532C>G MANE Select	ENSP00000264381.3:p.Thr511Ser
ENST00000264381.7:c.1532C>G	ENSP00000264381.3:p.Thr511Ser
ENST00000479451.5:c.122C>G	ENSP00000418325.1:p.Thr41Ser
ENST00000482958.1:c.*38C>G	ENSP00000419804.1:n.*38C>G
ENST00000488954.1:c.122C>G	ENSP00000418504.1:p.Thr41Ser
ENST00000497011.5:c.1532C>G	ENSP00000419505.1:p.Thr511Ser
NM_000055.2:c.1532C>G	NP_000046.1:p.Thr511Ser
XM_005247685.1:c.1655C>G	XP_005247742.1:p.Thr552Ser
NM_000055.3:c.1532C>G	NP_000046.1:p.Thr511Ser
NR_137635.1:n.174C>G
NR_137636.1:n.1699C>G
NM_000055.4:c.1532C>G MANE Select	NP_000046.1:p.Thr511Ser
NR_137635.2:n.125C>G
NR_137636.2:n.1650C>G