Canonical Allele Identifier: CA2692565

Gene: BCHE

Linked Data

• ClinVar Variation Id: 3063838
• ClinVar RCV Id: RCV003988426
• dbSNP Id: rs116047990
• ExAC: 3:165548703 T / C
• gnomAD v2: 3-165548703-T-C
• gnomAD v3: 3-165830915-T-C
• gnomAD v4: 3-165830915-T-C
• MyVariant Identifiers: chr3:g.165548703T>C (hg19) ; chr3:g.165830915T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830915T>C , CM000665.2:g.165830915T>C	GRCh38
NC_000003.11:g.165548703T>C , CM000665.1:g.165548703T>C	GRCh37
NC_000003.10:g.167031397T>C	NCBI36
NG_009031.1:g.11551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.119A>G MANE Select	ENSP00000264381.3:p.Lys40Arg
ENST00000264381.7:c.119A>G	ENSP00000264381.3:p.Lys40Arg
ENST00000479451.5:c.107+6399A>G	ENSP00000418325.1:n.107+6399A>G
ENST00000482958.1:c.119A>G	ENSP00000419804.1:p.Lys40Arg
ENST00000488954.1:c.107+6399A>G	ENSP00000418504.1:n.107+6399A>G
ENST00000497011.5:c.119A>G	ENSP00000419505.1:p.Lys40Arg
NM_000055.2:c.119A>G	NP_000046.1:p.Lys40Arg
XM_005247685.1:c.242A>G	XP_005247742.1:p.Lys81Arg
NM_000055.3:c.119A>G	NP_000046.1:p.Lys40Arg
NR_137635.1:n.159+6399A>G
NR_137636.1:n.286A>G
NM_000055.4:c.119A>G MANE Select	NP_000046.1:p.Lys40Arg
NR_137635.2:n.110+6399A>G
NR_137636.2:n.237A>G