Canonical Allele Identifier: CA129863

Gene: PLCB4

Linked Data

• ClinVar Variation Id: 31639
• ClinVar RCV Id: RCV000024335 ; RCV000191053 ; RCV000623188 ; RCV001249753 ; RCV002281044
• dbSNP Id: rs397514481
• COSMIC: COSM1029362
• MyVariant Identifiers: chr20:g.9389727G>A (hg19) ; chr20:g.9409080G>A (hg38)
• PubMed: PMID:16114046 ; PMID:18314001 ; PMID:22560091 ; PMID:23315542 ; PMID:27007857 ; PMID:28328130

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.9409080G>A , CM000682.2:g.9409080G>A	GRCh38
NC_000020.10:g.9389727G>A , CM000682.1:g.9389727G>A	GRCh37
NC_000020.9:g.9337727G>A	NCBI36
NG_032790.1:g.345027G>A
NG_032790.2:g.345027G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000278655.9:c.1808G>A	ENSP00000278655.5:p.Arg603His
ENST00000378493.6:c.1862G>A	ENSP00000367754.1:p.Arg621His
ENST00000378501.3:c.1862G>A	ENSP00000367762.2:p.Arg621His
ENST00000414679.7:c.1862G>A	ENSP00000390616.3:p.Arg621His
ENST00000684997.1:c.1862G>A	ENSP00000509144.1:p.Arg621His
ENST00000685110.1:c.1862G>A	ENSP00000510632.1:p.Arg621His
ENST00000685148.1:c.1862G>A	ENSP00000510512.1:p.Arg621His
ENST00000685298.1:c.1898G>A	ENSP00000509390.1:p.Arg633His
ENST00000685310.1:c.1862G>A	ENSP00000510124.1:p.Arg621His
ENST00000685446.1:n.2060G>A
ENST00000685482.1:c.1409G>A	ENSP00000510734.1:p.Arg470His
ENST00000685568.1:c.1898G>A	ENSP00000508726.1:p.Arg633His
ENST00000685823.1:c.1898G>A	ENSP00000508676.1:p.Arg633His
ENST00000685859.1:c.1862G>A	ENSP00000510302.1:p.Arg621His
ENST00000686117.1:c.1577G>A	ENSP00000509409.1:p.Arg526His
ENST00000686163.1:c.*354G>A	ENSP00000508442.1:n.*354G>A
ENST00000686253.1:c.1808G>A	ENSP00000510690.1:p.Arg603His
ENST00000686313.1:c.1862G>A	ENSP00000508595.1:p.Arg621His
ENST00000686532.1:n.2096G>A
ENST00000686584.1:c.1862G>A	ENSP00000508467.1:p.Arg621His
ENST00000686871.1:c.1862G>A	ENSP00000510118.1:p.Arg621His
ENST00000686893.1:c.1874G>A	ENSP00000508817.1:p.Arg625His
ENST00000686976.1:c.1862G>A	ENSP00000508600.1:p.Arg621His
ENST00000687147.1:n.1430G>A
ENST00000687299.1:c.*868G>A	ENSP00000509641.1:n.*868G>A
ENST00000687446.1:c.1808G>A	ENSP00000510275.1:p.Arg603His
ENST00000687765.1:c.1862G>A	ENSP00000509321.1:p.Arg621His
ENST00000688049.1:n.1373G>A
ENST00000688325.1:c.1862G>A	ENSP00000509615.1:p.Arg621His
ENST00000688465.1:n.702G>A
ENST00000688656.1:c.1862G>A	ENSP00000509912.1:p.Arg621His
ENST00000688837.1:c.1862G>A	ENSP00000509150.1:p.Arg621His
ENST00000689010.1:c.1658G>A	ENSP00000510457.1:p.Arg553His
ENST00000689392.1:c.1924G>A	ENSP00000510662.1:n.1924G>A
ENST00000689910.1:c.1862G>A	ENSP00000508650.1:p.Arg621His
ENST00000689976.1:n.953G>A
ENST00000690729.1:c.1559G>A	ENSP00000508624.1:p.Arg520His
ENST00000690960.1:c.1898G>A	ENSP00000509460.1:p.Arg633His
ENST00000691007.1:c.1862G>A	ENSP00000510215.1:p.Arg621His
ENST00000691112.1:c.1898G>A	ENSP00000509265.1:p.Arg633His
ENST00000692085.1:c.1862G>A	ENSP00000510341.1:p.Arg621His
ENST00000692395.1:c.1577G>A	ENSP00000509227.1:p.Arg526His
ENST00000693005.1:c.1862G>A	ENSP00000509597.1:p.Arg621His
ENST00000693090.1:c.1577G>A	ENSP00000510725.1:p.Arg526His
ENST00000693160.1:c.1862G>A	ENSP00000510063.1:p.Arg621His
ENST00000693492.1:c.*1141G>A	ENSP00000509766.1:n.*1141G>A
ENST00000693502.1:c.1703G>A	ENSP00000510444.1:p.Arg568His
ENST00000693544.1:c.1577G>A	ENSP00000509167.1:p.Arg526His
ENST00000693752.1:c.1862G>A	ENSP00000508677.1:p.Arg621His
ENST00000378473.9:c.1898G>A MANE Select	ENSP00000367734.5:p.Arg633His
ENST00000278655.8:c.1862G>A	ENSP00000278655.4:p.Arg621His
ENST00000378473.7:c.1898G>A	ENSP00000367734.3:p.Arg633His
ENST00000378493.5:c.1862G>A	ENSP00000367754.1:p.Arg621His
ENST00000378501.2:c.1862G>A	ENSP00000367762.2:p.Arg621His
ENST00000414679.6:c.1898G>A	ENSP00000390616.2:p.Arg633His
ENST00000464199.5:n.1639G>A
ENST00000473151.5:n.1553G>A
ENST00000482123.1:n.1589G>A
ENST00000492632.5:n.1877G>A
NM_000933.3:c.1862G>A	NP_000924.3:p.Arg621His
NM_001172646.1:c.1898G>A	NP_001166117.1:p.Arg633His
NM_182797.2:c.1862G>A	NP_877949.2:p.Arg621His
XM_005260724.1:c.1898G>A	XP_005260781.1:p.Arg633His
XM_005260728.1:c.1094G>A	XP_005260785.1:p.Arg365His
XM_006723568.2:c.1898G>A	XP_006723631.1:p.Arg633His
XM_006723569.1:c.1898G>A	XP_006723632.1:p.Arg633His
XM_011529251.1:c.1898G>A	XP_011527553.1:p.Arg633His
XM_011529252.1:c.1862G>A	XP_011527554.1:p.Arg621His
XM_011529253.1:c.1898G>A	XP_011527555.1:p.Arg633His
XM_011529254.1:c.1418G>A	XP_011527556.1:p.Arg473His
XM_005260724.2:c.1898G>A	XP_005260781.1:p.Arg633His
XM_005260728.2:c.1094G>A	XP_005260785.1:p.Arg365His
XM_006723568.3:c.1898G>A	XP_006723631.1:p.Arg633His
XM_006723569.2:c.1898G>A	XP_006723632.1:p.Arg633His
XM_011529254.2:c.1418G>A	XP_011527556.1:p.Arg473His
XM_017027880.1:c.1862G>A	XP_016883369.1:p.Arg621His
XM_017027881.1:c.1862G>A	XP_016883370.1:p.Arg621His
XM_017027882.1:c.1739G>A	XP_016883371.1:p.Arg580His
XM_017027883.1:c.1703G>A	XP_016883372.1:p.Arg568His
XM_017027884.1:c.1559G>A	XP_016883373.1:p.Arg520His
XM_017027886.1:c.1058G>A	XP_016883375.1:p.Arg353His
XM_024451898.1:c.1898G>A	XP_024307666.1:p.Arg633His
XM_024451899.1:c.1898G>A	XP_024307667.1:p.Arg633His
XM_024451900.1:c.1898G>A	XP_024307668.1:p.Arg633His
XM_024451901.1:c.1862G>A	XP_024307669.1:p.Arg621His
XM_024451902.1:c.1862G>A	XP_024307670.1:p.Arg621His
XM_024451903.1:c.1862G>A	XP_024307671.1:p.Arg621His
XM_024451904.1:c.1898G>A	XP_024307672.1:p.Arg633His
XM_024451905.1:c.1862G>A	XP_024307673.1:p.Arg621His
XM_024451906.1:c.1862G>A	XP_024307674.1:p.Arg621His
XM_024451907.1:c.1862G>A	XP_024307675.1:p.Arg621His
XM_024451908.1:c.1559G>A	XP_024307676.1:p.Arg520His
XM_024451909.1:c.1559G>A	XP_024307677.1:p.Arg520His
XM_024451910.1:c.1559G>A	XP_024307678.1:p.Arg520His
NM_000933.4:c.1862G>A	NP_000924.3:p.Arg621His
NM_001377134.1:c.1862G>A	NP_001364063.1:p.Arg621His
NM_001377135.1:c.1862G>A	NP_001364064.1:p.Arg621His
NM_001377136.1:c.1862G>A	NP_001364065.1:p.Arg621His
NM_001377142.1:c.1898G>A MANE Select	NP_001364071.1:p.Arg633His
NM_001377143.1:c.1898G>A	NP_001364072.1:p.Arg633His
NM_182797.3:c.1862G>A	NP_877949.2:p.Arg621His
NM_001172646.2:c.1898G>A	NP_001166117.1:p.Arg633His
NM_001377134.2:c.1862G>A	NP_001364063.1:p.Arg621His