Canonical Allele Identifier: CA382781729

Gene: CD3E

Linked Data

• ClinVar Variation Id: 1420019
• ClinVar RCV Id: RCV001913962
• dbSNP Id: rs2134766495
• MyVariant Identifiers: chr11:g.118183348T>C (hg19) ; chr11:g.118312633T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118312633T>C , CM000673.2:g.118312633T>C	GRCh38
NC_000011.9:g.118183348T>C , CM000673.1:g.118183348T>C	GRCh37
NC_000011.8:g.117688558T>C	NCBI36
NG_007383.1:g.13054T>C , LRG_38:g.13054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361763.9:c.119T>C MANE Select	ENSP00000354566.4:p.Ile40Thr
ENST00000361763.8:c.119T>C	ENSP00000354566.4:p.Ile40Thr
ENST00000526146.5:n.665T>C
ENST00000528435.5:n.672T>C
ENST00000528600.1:c.101T>C	ENSP00000433975.1:p.Ile34Thr
ENST00000529713.5:n.225T>C
ENST00000531913.1:n.490T>C
NM_000733.3:c.119T>C , LRG_38t1:c.119T>C	NP_000724.1:p.Ile40Thr
NM_000733.4:c.119T>C MANE Select	NP_000724.1:p.Ile40Thr