Canonical Allele Identifier: CA2692414

Gene: BCHE

Linked Data

• dbSNP Id: rs759053642
• ExAC: 3:165547952 C / G
• gnomAD v2: 3-165547952-C-G
• gnomAD v4: 3-165830164-C-G
• MyVariant Identifiers: chr3:g.165547952C>G (hg19) ; chr3:g.165830164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830164C>G , CM000665.2:g.165830164C>G	GRCh38
NC_000003.11:g.165547952C>G , CM000665.1:g.165547952C>G	GRCh37
NC_000003.10:g.167030646C>G	NCBI36
NG_009031.1:g.12302G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.870G>C MANE Select	ENSP00000264381.3:p.Lys290Asn
ENST00000264381.7:c.870G>C	ENSP00000264381.3:p.Lys290Asn
ENST00000479451.5:c.107+7150G>C	ENSP00000418325.1:n.107+7150G>C
ENST00000482958.1:c.870G>C	ENSP00000419804.1:p.Lys290Asn
ENST00000488954.1:c.107+7150G>C	ENSP00000418504.1:n.107+7150G>C
ENST00000497011.5:c.870G>C	ENSP00000419505.1:p.Lys290Asn
NM_000055.2:c.870G>C	NP_000046.1:p.Lys290Asn
XM_005247685.1:c.993G>C	XP_005247742.1:p.Lys331Asn
NM_000055.3:c.870G>C	NP_000046.1:p.Lys290Asn
NR_137635.1:n.159+7150G>C
NR_137636.1:n.1037G>C
NM_000055.4:c.870G>C MANE Select	NP_000046.1:p.Lys290Asn
NR_137635.2:n.110+7150G>C
NR_137636.2:n.988G>C