Canonical Allele Identifier: CA577711

Gene: PIK3CD

Linked Data

• ClinVar Variation Id: 2806436
• ClinVar RCV Id: RCV003745965
• dbSNP Id: rs766219239
• ExAC: 1:9786948 C / A
• gnomAD v2: 1-9786948-C-A
• gnomAD v4: 1-9726890-C-A
• MyVariant Identifiers: chr1:g.9786948C>A (hg19) ; chr1:g.9726890C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9726890C>A , CM000663.2:g.9726890C>A	GRCh38
NC_000001.10:g.9786948C>A , CM000663.1:g.9786948C>A	GRCh37
NC_000001.9:g.9709535C>A	NCBI36
NG_023434.1:g.80159C>A , LRG_191:g.80159C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000481137.2:c.*2252-19C>A	ENSP00000513886.1:n.*2252-19C>A
ENST00000698709.1:c.2902-19C>A	ENSP00000513887.1:n.2902-19C>A
ENST00000698710.1:c.2995-19C>A	ENSP00000513888.1:n.2995-19C>A
ENST00000698712.1:c.2998-19C>A	ENSP00000513889.1:n.2998-19C>A
ENST00000698713.1:c.2998-19C>A	ENSP00000513890.1:n.2998-19C>A
ENST00000698714.1:c.2854-19C>A	ENSP00000513891.1:n.2854-19C>A
ENST00000698715.1:c.2995-19C>A	ENSP00000513892.1:n.2995-19C>A
ENST00000698716.1:c.2986-19C>A	ENSP00000513893.1:n.2986-19C>A
ENST00000698719.1:n.2159-19C>A
ENST00000377346.9:c.2998-19C>A MANE Select	ENSP00000366563.4:n.2998-19C>A
ENST00000361110.6:c.3070-19C>A	ENSP00000354410.2:n.3070-19C>A
ENST00000377346.8:c.2998-19C>A	ENSP00000366563.4:n.2998-19C>A
ENST00000536656.5:c.3070-19C>A	ENSP00000446444.2:n.3070-19C>A
ENST00000543390.2:c.3070-19C>A	ENSP00000443811.2:n.3070-19C>A
ENST00000628140.2:c.3070-19C>A	ENSP00000486826.1:n.3070-19C>A
NM_005026.3:c.2998-19C>A , LRG_191t1:c.2998-19C>A	NP_005017.3:n.2998-19C>A
XM_005263473.1:c.2995-19C>A	XP_005263530.1:n.2995-19C>A
XM_006710686.1:c.2998-19C>A	XP_006710749.1:n.2998-19C>A
XM_006710687.1:c.2998-19C>A	XP_006710750.1:n.2998-19C>A
XM_006710688.1:c.2998-19C>A	XP_006710751.1:n.2998-19C>A
XM_006710689.1:c.2998-19C>A	XP_006710752.1:n.2998-19C>A
XM_006710690.1:c.2911-19C>A	XP_006710753.1:n.2911-19C>A
XM_011541581.1:c.2998-19C>A	XP_011539883.1:n.2998-19C>A
XM_011541582.1:c.2854-19C>A	XP_011539884.1:n.2854-19C>A
XM_011541583.1:c.2350-19C>A	XP_011539885.1:n.2350-19C>A
XR_946667.1:n.3083-19C>A
NM_001350234.1:c.2995-19C>A	NP_001337163.1:n.2995-19C>A
NM_001350235.1:c.2911-19C>A	NP_001337164.1:n.2911-19C>A
NM_005026.4:c.2998-19C>A	NP_005017.3:n.2998-19C>A
XM_006710687.2:c.2998-19C>A	XP_006710750.1:n.2998-19C>A
XM_006710689.2:c.2998-19C>A	XP_006710752.1:n.2998-19C>A
XM_017001476.1:c.3175-19C>A	XP_016856965.1:n.3175-19C>A
XM_017001477.1:c.3175-19C>A	XP_016856966.1:n.3175-19C>A
XM_017001478.1:c.3175-19C>A	XP_016856967.1:n.3175-19C>A
XM_017001479.1:c.3175-19C>A	XP_016856968.1:n.3175-19C>A
XM_017001480.1:c.3175-19C>A	XP_016856969.1:n.3175-19C>A
XM_017001481.1:c.3175-19C>A	XP_016856970.1:n.3175-19C>A
XM_017001482.2:c.3175-19C>A	XP_016856971.1:n.3175-19C>A
XM_017001483.2:c.3088-19C>A	XP_016856972.1:n.3088-19C>A
XM_024447661.1:c.3175-19C>A	XP_024303429.1:n.3175-19C>A
XM_024447663.1:c.2995-19C>A	XP_024303431.1:n.2995-19C>A
XM_024447664.1:c.2911-19C>A	XP_024303432.1:n.2911-19C>A
XR_002956806.1:n.3083-19C>A
NM_001350234.2:c.2995-19C>A	NP_001337163.1:n.2995-19C>A
NM_005026.5:c.2998-19C>A MANE Select	NP_005017.3:n.2998-19C>A