Canonical Allele Identifier: CA16040924
Gene: BCHE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371356
ClinVar RCV Id: RCV000412077
dbSNP Id: rs1057517208

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830415G>A , CM000665.2:g.165830415G>A GRCh38
NC_000003.10:g.167030897G>A NCBI36
NC_000003.11:g.165548203G>A , CM000665.1:g.165548203G>A GRCh37
NG_009031.1:g.12051C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.7:c.619C>T ENSP00000264381.3:p.Gln207Ter
ENST00000479451.5:n.107+6899C>T ENSP00000418325.1:p.=
ENST00000482958.1:c.619C>T ENSP00000419804.1:p.Gln207Ter
ENST00000488954.1:n.107+6899C>T ENSP00000418504.1:p.=
ENST00000497011.5:c.619C>T ENSP00000419505.1:p.Gln207Ter
NM_000055.2:c.619C>T VV NP_000046.1:p.Gln207Ter
XM_005247685.1:c.742C>T XP_005247742.1:p.Gln248Ter
NM_000055.3:c.619C>T VV
NR_137635.1:n.159+6899C>T
NR_137636.1:n.786C>T