Canonical Allele Identifier: CA6301640

Gene: CD3E

Linked Data

• ClinVar Variation Id: 838943
• ClinVar RCV Id: RCV001040601 ; RCV002551477
• dbSNP Id: rs200087808
• ExAC: 11:118183431 G / A
• gnomAD v2: 11-118183431-G-A
• gnomAD v3: 11-118312716-G-A
• gnomAD v4: 11-118312716-G-A
• MyVariant Identifiers: chr11:g.118183431G>A (hg19) ; chr11:g.118183431_118183458delinsAGTGATGAGGATGATAAAAACATAGGCA (hg19) ; chr11:g.118312716G>A (hg38) ; chr11:g.118312716_118312743delinsAGTGATGAGGATGATAAAAACATAGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118312716G>A , CM000673.2:g.118312716G>A	GRCh38
NC_000011.9:g.118183431G>A , CM000673.1:g.118183431G>A	GRCh37
NC_000011.8:g.117688641G>A	NCBI36
NG_007383.1:g.13137G>A , LRG_38:g.13137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361763.9:c.202G>A MANE Select	ENSP00000354566.4:p.Gly68Ser
ENST00000361763.8:c.202G>A	ENSP00000354566.4:p.Gly68Ser
ENST00000526146.5:n.748G>A
ENST00000528435.5:n.755G>A
ENST00000528600.1:c.184G>A	ENSP00000433975.1:p.Gly62Ser
ENST00000529713.5:n.308G>A
ENST00000531913.1:n.573G>A
NM_000733.3:c.202G>A , LRG_38t1:c.202G>A	NP_000724.1:p.Gly68Ser
NM_000733.4:c.202G>A MANE Select	NP_000724.1:p.Gly68Ser