Canonical Allele Identifier: CA382782460

Gene: CD3E

Linked Data

• ClinVar Variation Id: 1051198
• ClinVar RCV Id: RCV001359203
• dbSNP Id: rs2134766737
• MyVariant Identifiers: chr11:g.118183468A>C (hg19) ; chr11:g.118312753A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118312753A>C , CM000673.2:g.118312753A>C	GRCh38
NC_000011.9:g.118183468A>C , CM000673.1:g.118183468A>C	GRCh37
NC_000011.8:g.117688678A>C	NCBI36
NG_007383.1:g.13174A>C , LRG_38:g.13174A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361763.9:c.239A>C MANE Select	ENSP00000354566.4:p.Asp80Ala
ENST00000361763.8:c.239A>C	ENSP00000354566.4:p.Asp80Ala
ENST00000526146.5:n.785A>C
ENST00000528435.5:n.792A>C
ENST00000528600.1:c.221A>C	ENSP00000433975.1:p.Asp74Ala
ENST00000529713.5:n.345A>C
ENST00000531913.1:n.610A>C
NM_000733.3:c.239A>C , LRG_38t1:c.239A>C	NP_000724.1:p.Asp80Ala
NM_000733.4:c.239A>C MANE Select	NP_000724.1:p.Asp80Ala