Canonical Allele Identifier: CA2692238

Gene: BCHE

Linked Data

• dbSNP Id: rs7626617
• ExAC: 3:165503918 T / C
• gnomAD v2: 3-165503918-T-C
• gnomAD v3: 3-165786130-T-C
• gnomAD v4: 3-165786130-T-C
• MyVariant Identifiers: chr3:g.165503918T>C (hg19) ; chr3:g.165786130T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786130T>C , CM000665.2:g.165786130T>C	GRCh38
NC_000003.11:g.165503918T>C , CM000665.1:g.165503918T>C	GRCh37
NC_000003.10:g.166986612T>C	NCBI36
NG_009031.1:g.56336A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1684+15A>G MANE Select	ENSP00000264381.3:n.1684+15A>G
ENST00000264381.7:c.1684+15A>G	ENSP00000264381.3:n.1684+15A>G
ENST00000479451.5:c.274+15A>G	ENSP00000418325.1:n.274+15A>G
ENST00000482958.1:c.*190+15A>G	ENSP00000419804.1:n.*190+15A>G
ENST00000488954.1:c.274+15A>G	ENSP00000418504.1:n.274+15A>G
ENST00000497011.5:c.1684+15A>G	ENSP00000419505.1:n.1684+15A>G
NM_000055.2:c.1684+15A>G	NP_000046.1:n.1684+15A>G
XM_005247685.1:c.1807+15A>G	XP_005247742.1:n.1807+15A>G
NM_000055.3:c.1684+15A>G	NP_000046.1:n.1684+15A>G
NR_137635.1:n.326+15A>G
NR_137636.1:n.1851+15A>G
NM_000055.4:c.1684+15A>G MANE Select	NP_000046.1:n.1684+15A>G
NR_137635.2:n.277+15A>G
NR_137636.2:n.1802+15A>G