Canonical Allele Identifier: CA6301942

Gene: CD3D

Linked Data

• ClinVar Variation Id: 1475297
• ClinVar RCV Id: RCV001976133
• dbSNP Id: rs201266811
• ExAC: 11:118210621 A / G
• gnomAD v2: 11-118210621-A-G
• gnomAD v4: 11-118339906-A-G
• MyVariant Identifiers: chr11:g.118210621A>G (hg19) ; chr11:g.118339906A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118339906A>G , CM000673.2:g.118339906A>G	GRCh38
NC_000011.9:g.118210621A>G , CM000673.1:g.118210621A>G	GRCh37
NC_000011.8:g.117715831A>G	NCBI36
NG_007566.1:g.563A>G , LRG_39:g.563A>G
NG_009891.1:g.7839T>C , LRG_37:g.7839T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695666.1:n.762T>C
ENST00000695667.1:n.280T>C
ENST00000695668.1:n.2260T>C
ENST00000300692.9:c.275T>C MANE Select	ENSP00000300692.4:p.Met92Thr
ENST00000300692.8:c.275T>C	ENSP00000300692.4:p.Met92Thr
ENST00000392884.2:c.275-412T>C	ENSP00000376622.2:n.275-412T>C
ENST00000526561.1:n.80-412T>C
ENST00000529594.5:c.56T>C	ENSP00000437335.1:p.Val19Ala
ENST00000534687.5:c.288-412T>C
NM_000732.4:c.275T>C , LRG_37t1:c.275T>C	NP_000723.1:p.Met92Thr
NM_001040651.1:c.275-412T>C	NP_001035741.1:n.275-412T>C
NM_001040651.2:c.275-412T>C	NP_001035741.1:n.275-412T>C
NM_000732.6:c.275T>C MANE Select	NP_000723.1:p.Met92Thr