Canonical Allele Identifier: CA2692362

Gene: BCHE

Linked Data

• ClinVar Variation Id: 900999
• ClinVar RCV Id: RCV001146602
• dbSNP Id: rs146936556
• ExAC: 3:165547672 T / C
• gnomAD v2: 3-165547672-T-C
• gnomAD v3: 3-165829884-T-C
• gnomAD v4: 3-165829884-T-C
• MyVariant Identifiers: chr3:g.165547672T>C (hg19) ; chr3:g.165829884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829884T>C , CM000665.2:g.165829884T>C	GRCh38
NC_000003.11:g.165547672T>C , CM000665.1:g.165547672T>C	GRCh37
NC_000003.10:g.167030366T>C	NCBI36
NG_009031.1:g.12582A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1150A>G MANE Select	ENSP00000264381.3:p.Ile384Val
ENST00000264381.7:c.1150A>G	ENSP00000264381.3:p.Ile384Val
ENST00000479451.5:c.107+7430A>G	ENSP00000418325.1:n.107+7430A>G
ENST00000482958.1:c.1150A>G	ENSP00000419804.1:p.Ile384Val
ENST00000488954.1:c.107+7430A>G	ENSP00000418504.1:n.107+7430A>G
ENST00000497011.5:c.1150A>G	ENSP00000419505.1:p.Ile384Val
NM_000055.2:c.1150A>G	NP_000046.1:p.Ile384Val
XM_005247685.1:c.1273A>G	XP_005247742.1:p.Ile425Val
NM_000055.3:c.1150A>G	NP_000046.1:p.Ile384Val
NR_137635.1:n.159+7430A>G
NR_137636.1:n.1317A>G
NM_000055.4:c.1150A>G MANE Select	NP_000046.1:p.Ile384Val
NR_137635.2:n.110+7430A>G
NR_137636.2:n.1268A>G