Canonical Allele Identifier: CA289996
Gene: CD3E HGNC NCBI

Linked Data

ClinVar Variation Id: 136689
ClinVar RCV Id: RCV000124172 RCV001509683
dbSNP Id: rs2231443
ExAC: 11:118183316 C / T
gnomAD v2: 11-118183316-C-T
gnomAD v3: 11-118312601-C-T
gnomAD v4: 11-118312601-C-T
MyVariant Identifiers: chr11:g.118183316C>T (hg19) chr11:g.118312601C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118312601C>T , CM000673.2:g.118312601C>T GRCh38
NC_000011.9:g.118183316C>T , CM000673.1:g.118183316C>T GRCh37
NC_000011.8:g.117688526C>T NCBI36
NG_007383.1:g.13022C>T , LRG_38:g.13022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361763.9:c.104-17C>T MANE Select ENSP00000354566.4:n.104-17C>T
ENST00000361763.8:c.104-17C>T ENSP00000354566.4:n.104-17C>T
ENST00000526146.5:n.633C>T
ENST00000528435.5:n.640C>T
ENST00000528600.1:c.86-17C>T ENSP00000433975.1:n.86-17C>T
ENST00000529713.5:n.210-17C>T
ENST00000531913.1:n.458C>T
NM_000733.3:c.104-17C>T , LRG_38t1:c.104-17C>T NP_000724.1:n.104-17C>T
NM_000733.4:c.104-17C>T MANE Select NP_000724.1:n.104-17C>T
Search 100 bp 5'
Search 100 bp 3'