Canonical Allele Identifier: CA355111388

Gene: BCHE

Linked Data

• ClinVar Variation Id: 2545443
• ClinVar RCV Id: RCV003242639
• dbSNP Id: rs1281700477
• gnomAD v3: 3-165829927-G-T
• gnomAD v4: 3-165829927-G-T
• MyVariant Identifiers: chr3:g.165547715G>T (hg19) ; chr3:g.165829927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829927G>T , CM000665.2:g.165829927G>T	GRCh38
NC_000003.11:g.165547715G>T , CM000665.1:g.165547715G>T	GRCh37
NC_000003.10:g.167030409G>T	NCBI36
NG_009031.1:g.12539C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1107C>A MANE Select	ENSP00000264381.3:p.Asn369Lys
ENST00000264381.7:c.1107C>A	ENSP00000264381.3:p.Asn369Lys
ENST00000479451.5:c.107+7387C>A	ENSP00000418325.1:n.107+7387C>A
ENST00000482958.1:c.1107C>A	ENSP00000419804.1:p.Asn369Lys
ENST00000488954.1:c.107+7387C>A	ENSP00000418504.1:n.107+7387C>A
ENST00000497011.5:c.1107C>A	ENSP00000419505.1:p.Asn369Lys
NM_000055.2:c.1107C>A	NP_000046.1:p.Asn369Lys
XM_005247685.1:c.1230C>A	XP_005247742.1:p.Asn410Lys
NM_000055.3:c.1107C>A	NP_000046.1:p.Asn369Lys
NR_137635.1:n.159+7387C>A
NR_137636.1:n.1274C>A
NM_000055.4:c.1107C>A MANE Select	NP_000046.1:p.Asn369Lys
NR_137635.2:n.110+7387C>A
NR_137636.2:n.1225C>A