Canonical Allele Identifier: CA2692385
Gene: BCHE HGNC NCBI
dbSNP:
771017682
gnomAD v2:
3:165547784 C / A
gnomAD v3:
3:165829996 C / A
gnomAD v4:
chr3-165829996-C-A
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
MyVariant.info:
GRCh38 chr3:g.165829996C>A
GRCh37 chr3:g.165547784C>A
Revel Score:
ENST00000264381 (MANE Select) 0.577
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829996C>A , CM000665.2:g.165829996C>A GRCh38
NC_000003.11:g.165547784C>A , CM000665.1:g.165547784C>A GRCh37
NC_000003.10:g.167030478C>A NCBI36
NG_009031.1:g.12470G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1038G>T MANE Select ENSP00000264381.3:p.Leu346Phe
ENST00000264381.7:c.1038G>T ENSP00000264381.3:p.Leu346Phe
ENST00000479451.5:c.107+7318G>T ENSP00000418325.1:n.107+7318G>T
ENST00000482958.1:c.1038G>T ENSP00000419804.1:p.Leu346Phe
ENST00000488954.1:c.107+7318G>T ENSP00000418504.1:n.107+7318G>T
ENST00000497011.5:c.1038G>T ENSP00000419505.1:p.Leu346Phe
NM_000055.2:c.1038G>T NP_000046.1:p.Leu346Phe
XM_005247685.1:c.1161G>T XP_005247742.1:p.Leu387Phe
NM_000055.3:c.1038G>T NP_000046.1:p.Leu346Phe
NR_137635.1:n.159+7318G>T
NR_137636.1:n.1205G>T
NM_000055.4:c.1038G>T MANE Select NP_000046.1:p.Leu346Phe
NR_137635.2:n.110+7318G>T
NR_137636.2:n.1156G>T
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