Canonical Allele Identifier: CA87406618

Gene: BCHE

Linked Data

• dbSNP Id: rs4680662
• gnomAD v2: 3-165516550-A-G
• gnomAD v3: 3-165798762-A-G
• gnomAD v4: 3-165798762-A-G
• MyVariant Identifiers: chr3:g.165516550A>G (hg19) ; chr3:g.165798762A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165798762A>G , CM000665.2:g.165798762A>G	GRCh38
NC_000003.11:g.165516550A>G , CM000665.1:g.165516550A>G	GRCh37
NC_000003.10:g.166999244A>G	NCBI36
NG_009031.1:g.43704T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1518-12451T>C MANE Select	ENSP00000264381.3:n.1518-12451T>C
ENST00000264381.7:c.1518-12451T>C	ENSP00000264381.3:n.1518-12451T>C
ENST00000479451.5:c.108-12451T>C	ENSP00000418325.1:n.108-12451T>C
ENST00000482958.1:c.*24-12451T>C	ENSP00000419804.1:n.*24-12451T>C
ENST00000488954.1:c.108-12451T>C	ENSP00000418504.1:n.108-12451T>C
ENST00000497011.5:c.1518-12451T>C	ENSP00000419505.1:n.1518-12451T>C
NM_000055.2:c.1518-12451T>C	NP_000046.1:n.1518-12451T>C
XM_005247685.1:c.1641-12451T>C	XP_005247742.1:n.1641-12451T>C
NM_000055.3:c.1518-12451T>C	NP_000046.1:n.1518-12451T>C
NR_137635.1:n.160-12451T>C
NR_137636.1:n.1685-12451T>C
NM_000055.4:c.1518-12451T>C MANE Select	NP_000046.1:n.1518-12451T>C
NR_137635.2:n.111-12451T>C
NR_137636.2:n.1636-12451T>C