Canonical Allele Identifier: CA2692403

Gene: BCHE

Linked Data

• dbSNP Id: rs142586213
• ExAC: 3:165547881 A / C
• gnomAD v2: 3-165547881-A-C
• gnomAD v3: 3-165830093-A-C
• gnomAD v4: 3-165830093-A-C
• MyVariant Identifiers: chr3:g.165547881A>C (hg19) ; chr3:g.165830093A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830093A>C , CM000665.2:g.165830093A>C	GRCh38
NC_000003.11:g.165547881A>C , CM000665.1:g.165547881A>C	GRCh37
NC_000003.10:g.167030575A>C	NCBI36
NG_009031.1:g.12373T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.941T>G MANE Select	ENSP00000264381.3:p.Leu314Trp
ENST00000264381.7:c.941T>G	ENSP00000264381.3:p.Leu314Trp
ENST00000479451.5:c.107+7221T>G	ENSP00000418325.1:n.107+7221T>G
ENST00000482958.1:c.941T>G	ENSP00000419804.1:p.Leu314Trp
ENST00000488954.1:c.107+7221T>G	ENSP00000418504.1:n.107+7221T>G
ENST00000497011.5:c.941T>G	ENSP00000419505.1:p.Leu314Trp
NM_000055.2:c.941T>G	NP_000046.1:p.Leu314Trp
XM_005247685.1:c.1064T>G	XP_005247742.1:p.Leu355Trp
NM_000055.3:c.941T>G	NP_000046.1:p.Leu314Trp
NR_137635.1:n.159+7221T>G
NR_137636.1:n.1108T>G
NM_000055.4:c.941T>G MANE Select	NP_000046.1:p.Leu314Trp
NR_137635.2:n.110+7221T>G
NR_137636.2:n.1059T>G