Canonical Allele Identifier: CA355111124

Gene: BCHE

Linked Data

• ClinVar Variation Id: 551943
• ClinVar RCV Id: RCV000667116
• dbSNP Id: rs1278095773
• gnomAD v4: 3-165829812-G-A
• MyVariant Identifiers: chr3:g.165547600G>A (hg19) ; chr3:g.165829812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829812G>A , CM000665.2:g.165829812G>A	GRCh38
NC_000003.11:g.165547600G>A , CM000665.1:g.165547600G>A	GRCh37
NC_000003.10:g.167030294G>A	NCBI36
NG_009031.1:g.12654C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1222C>T MANE Select	ENSP00000264381.3:p.Gln408Ter
ENST00000264381.7:c.1222C>T	ENSP00000264381.3:p.Gln408Ter
ENST00000479451.5:c.107+7502C>T	ENSP00000418325.1:n.107+7502C>T
ENST00000482958.1:c.1222C>T	ENSP00000419804.1:p.Gln408Ter
ENST00000488954.1:c.107+7502C>T	ENSP00000418504.1:n.107+7502C>T
ENST00000497011.5:c.1222C>T	ENSP00000419505.1:p.Gln408Ter
NM_000055.2:c.1222C>T	NP_000046.1:p.Gln408Ter
XM_005247685.1:c.1345C>T	XP_005247742.1:p.Gln449Ter
NM_000055.3:c.1222C>T	NP_000046.1:p.Gln408Ter
NR_137635.1:n.159+7502C>T
NR_137636.1:n.1389C>T
NM_000055.4:c.1222C>T MANE Select	NP_000046.1:p.Gln408Ter
NR_137635.2:n.110+7502C>T
NR_137636.2:n.1340C>T