Canonical Allele Identifier: CA2692336

Gene: BCHE

Linked Data

• ClinVar Variation Id: 344091
• ClinVar RCV Id: RCV000305441 ; RCV000942318
• dbSNP Id: rs144987429
• ExAC: 3:165547495 T / G
• gnomAD v2: 3-165547495-T-G
• gnomAD v3: 3-165829707-T-G
• gnomAD v4: 3-165829707-T-G
• MyVariant Identifiers: chr3:g.165547495T>G (hg19) ; chr3:g.165829707T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829707T>G , CM000665.2:g.165829707T>G	GRCh38
NC_000003.11:g.165547495T>G , CM000665.1:g.165547495T>G	GRCh37
NC_000003.10:g.167030189T>G	NCBI36
NG_009031.1:g.12759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1327A>C MANE Select	ENSP00000264381.3:p.Asn443His
ENST00000264381.7:c.1327A>C	ENSP00000264381.3:p.Asn443His
ENST00000479451.5:c.107+7607A>C	ENSP00000418325.1:n.107+7607A>C
ENST00000482958.1:c.1327A>C	ENSP00000419804.1:p.Asn443His
ENST00000488954.1:c.107+7607A>C	ENSP00000418504.1:n.107+7607A>C
ENST00000497011.5:c.1327A>C	ENSP00000419505.1:p.Asn443His
NM_000055.2:c.1327A>C	NP_000046.1:p.Asn443His
XM_005247685.1:c.1450A>C	XP_005247742.1:p.Asn484His
NM_000055.3:c.1327A>C	NP_000046.1:p.Asn443His
NR_137635.1:n.159+7607A>C
NR_137636.1:n.1494A>C
NM_000055.4:c.1327A>C MANE Select	NP_000046.1:p.Asn443His
NR_137635.2:n.110+7607A>C
NR_137636.2:n.1445A>C