Canonical Allele Identifier: CA16040920
Gene: BCHE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371460
ClinVar RCV Id: RCV000411420
dbSNP Id: rs1057517288

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829795del , CM000665.2:g.165829795del GRCh38
NC_000003.11:g.165547583del , CM000665.1:g.165547583del GRCh37
NC_000003.10:g.167030277del NCBI36
NG_009031.1:g.12672del

Transcript Alleles

HGVS Amino-acid change
NM_000055.2:c.1240del VV NP_000046.1:p.Arg414ValfsTer?
XM_005247685.1:c.1363del XP_005247742.1:p.Arg455ValfsTer?
NM_000055.3:c.1240del VV
NR_137635.1:n.159+7520del
NR_137636.1:n.1407del
ENST00000264381.7:c.1240del ENSP00000264381.3:p.Arg414ValfsTer?
ENST00000479451.5:n.107+7520del ENSP00000418325.1:p.=
ENST00000482958.1:c.1240del ENSP00000419804.1:p.Arg414ValfsTer?
ENST00000488954.1:n.107+7520del ENSP00000418504.1:p.=
ENST00000497011.5:c.1240del ENSP00000419505.1:p.Arg414ValfsTer?