Canonical Allele Identifier: CA382781854

Gene: CD3E

Linked Data

• ClinVar Variation Id: 2233779
• ClinVar RCV Id: RCV002718120
• dbSNP Id: rs1948142016
• MyVariant Identifiers: chr11:g.118183374T>A (hg19) ; chr11:g.118312659T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118312659T>A , CM000673.2:g.118312659T>A	GRCh38
NC_000011.9:g.118183374T>A , CM000673.1:g.118183374T>A	GRCh37
NC_000011.8:g.117688584T>A	NCBI36
NG_007383.1:g.13080T>A , LRG_38:g.13080T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361763.9:c.145T>A MANE Select	ENSP00000354566.4:p.Cys49Ser
ENST00000361763.8:c.145T>A	ENSP00000354566.4:p.Cys49Ser
ENST00000526146.5:n.691T>A
ENST00000528435.5:n.698T>A
ENST00000528600.1:c.127T>A	ENSP00000433975.1:p.Cys43Ser
ENST00000529713.5:n.251T>A
ENST00000531913.1:n.516T>A
NM_000733.3:c.145T>A , LRG_38t1:c.145T>A	NP_000724.1:p.Cys49Ser
NM_000733.4:c.145T>A MANE Select	NP_000724.1:p.Cys49Ser