Canonical Allele Identifier: CA2692198
Gene: BCHE HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.165773455T>C
GRCh37 chr3:g.165491243T>C
Revel Score:
ENST00000264381 (MANE Select) 0.115
ENST00000479451 0.115
ENST00000540653 0.115
gnomAD v2:
3:165491243 T / C
gnomAD v3:
3:165773455 T / C
gnomAD v4:
chr3-165773455-T-C
Joint Max Group AF 0.00012059 (EAS)
Exomes Max Group AF 0.00011863 (EAS)
ClinVar RCV:
RCV000404222
RCV002520107
ClinVar Variation:
344088
dbSNP:
750175032
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165773455T>C , CM000665.2:g.165773455T>C GRCh38
NC_000003.11:g.165491243T>C , CM000665.1:g.165491243T>C GRCh37
NC_000003.10:g.166973937T>C NCBI36
NG_009031.1:g.69011A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1736A>G MANE Select ENSP00000264381.3:p.Asn579Ser
ENST00000264381.7:c.1736A>G ENSP00000264381.3:p.Asn579Ser
ENST00000479451.5:c.326A>G ENSP00000418325.1:p.Asn109Ser
ENST00000482958.1:c.*242A>G ENSP00000419804.1:n.*242A>G
ENST00000497011.5:c.*126A>G ENSP00000419505.1:n.*126A>G
NM_000055.2:c.1736A>G NP_000046.1:p.Asn579Ser
XM_005247685.1:c.1859A>G XP_005247742.1:p.Asn620Ser
NM_000055.3:c.1736A>G NP_000046.1:p.Asn579Ser
NR_137635.1:n.378A>G
NR_137636.1:n.1982A>G
NM_000055.4:c.1736A>G MANE Select NP_000046.1:p.Asn579Ser
NR_137635.2:n.329A>G
NR_137636.2:n.1933A>G
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