Canonical Allele Identifier: CA382781912

Gene: CD3E

Linked Data

• gnomAD v4: 11-118312672-C-A
• MyVariant Identifiers: chr11:g.118183387C>A (hg19) ; chr11:g.118312672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118312672C>A , CM000673.2:g.118312672C>A	GRCh38
NC_000011.9:g.118183387C>A , CM000673.1:g.118183387C>A	GRCh37
NC_000011.8:g.117688597C>A	NCBI36
NG_007383.1:g.13093C>A , LRG_38:g.13093C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361763.9:c.158C>A MANE Select	ENSP00000354566.4:p.Pro53His
ENST00000361763.8:c.158C>A	ENSP00000354566.4:p.Pro53His
ENST00000526146.5:n.704C>A
ENST00000528435.5:n.711C>A
ENST00000528600.1:c.140C>A	ENSP00000433975.1:p.Pro47His
ENST00000529713.5:n.264C>A
ENST00000531913.1:n.529C>A
NM_000733.3:c.158C>A , LRG_38t1:c.158C>A	NP_000724.1:p.Pro53His
NM_000733.4:c.158C>A MANE Select	NP_000724.1:p.Pro53His