Canonical Allele Identifier: CA477082749
Gene: CD3E HGNC NCBI

Linked Data

ClinVar Variation Id: 2856311
ClinVar RCV Id: RCV003743130
dbSNP Id: rs1419311230
gnomAD v3: 11-118312802-T-C
gnomAD v4: 11-118312802-T-C
MyVariant Identifiers: chr11:g.118183517T>C (hg19) chr11:g.118312802T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118312802T>C , CM000673.2:g.118312802T>C GRCh38
NC_000011.9:g.118183517T>C , CM000673.1:g.118183517T>C GRCh37
NC_000011.8:g.117688727T>C NCBI36
NG_007383.1:g.13223T>C , LRG_38:g.13223T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361763.9:c.288T>C MANE Select ENSP00000354566.4:p.Tyr96=
ENST00000361763.8:c.288T>C ENSP00000354566.4:p.Tyr96=
ENST00000526146.5:n.834T>C
ENST00000528435.5:n.841T>C
ENST00000528600.1:c.270T>C ENSP00000433975.1:p.Tyr90=
ENST00000529713.5:n.394T>C
ENST00000531913.1:n.659T>C
NM_000733.3:c.288T>C , LRG_38t1:c.288T>C NP_000724.1:p.Tyr96=
NM_000733.4:c.288T>C MANE Select NP_000724.1:p.Tyr96=
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