Canonical Allele Identifier: CA382782329

Gene: CD3E

Linked Data

• dbSNP Id: rs1948142768
• gnomAD v4: 11-118312737-A-G
• MyVariant Identifiers: chr11:g.118183452A>G (hg19) ; chr11:g.118312737A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118312737A>G , CM000673.2:g.118312737A>G	GRCh38
NC_000011.9:g.118183452A>G , CM000673.1:g.118183452A>G	GRCh37
NC_000011.8:g.117688662A>G	NCBI36
NG_007383.1:g.13158A>G , LRG_38:g.13158A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361763.9:c.223A>G MANE Select	ENSP00000354566.4:p.Ile75Val
ENST00000361763.8:c.223A>G	ENSP00000354566.4:p.Ile75Val
ENST00000526146.5:n.769A>G
ENST00000528435.5:n.776A>G
ENST00000528600.1:c.205A>G	ENSP00000433975.1:p.Ile69Val
ENST00000529713.5:n.329A>G
ENST00000531913.1:n.594A>G
NM_000733.3:c.223A>G , LRG_38t1:c.223A>G	NP_000724.1:p.Ile75Val
NM_000733.4:c.223A>G MANE Select	NP_000724.1:p.Ile75Val