Canonical Allele Identifier: CA16608485
Gene: PLCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 382944
ClinVar RCV Id: RCV000443167
dbSNP Id: rs1057521489
MyVariant Identifiers: chr20:g.9346111G>T (hg19) chr20:g.9365464G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.9365464G>T , CM000682.2:g.9365464G>T GRCh38
NC_000020.10:g.9346111G>T , CM000682.1:g.9346111G>T GRCh37
NC_000020.9:g.9294111G>T NCBI36
NG_032790.1:g.301411G>T
NG_032790.2:g.301411G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000278655.9:c.449+2489G>T ENSP00000278655.5:n.449+2489G>T
ENST00000378493.6:c.453G>T ENSP00000367754.1:p.Trp151Cys
ENST00000378501.3:c.453G>T ENSP00000367762.2:p.Trp151Cys
ENST00000407043.7:n.616G>T
ENST00000414679.7:c.453G>T ENSP00000390616.3:p.Trp151Cys
ENST00000684997.1:c.453G>T ENSP00000509144.1:p.Trp151Cys
ENST00000685110.1:c.453G>T ENSP00000510632.1:p.Trp151Cys
ENST00000685148.1:c.453G>T ENSP00000510512.1:p.Trp151Cys
ENST00000685298.1:c.453G>T ENSP00000509390.1:p.Trp151Cys
ENST00000685310.1:c.453G>T ENSP00000510124.1:p.Trp151Cys
ENST00000685446.1:n.651G>T
ENST00000685482.1:c.453G>T ENSP00000510734.1:p.Trp151Cys
ENST00000685568.1:c.453G>T ENSP00000508726.1:p.Trp151Cys
ENST00000685823.1:c.453G>T ENSP00000508676.1:p.Trp151Cys
ENST00000685859.1:c.453G>T ENSP00000510302.1:p.Trp151Cys
ENST00000686117.1:c.168G>T ENSP00000509409.1:p.Trp56Cys
ENST00000686163.1:c.453G>T ENSP00000508442.1:p.Trp151Cys
ENST00000686253.1:c.449+2489G>T ENSP00000510690.1:n.449+2489G>T
ENST00000686313.1:c.453G>T ENSP00000508595.1:p.Trp151Cys
ENST00000686532.1:n.651G>T
ENST00000686584.1:c.453G>T ENSP00000508467.1:p.Trp151Cys
ENST00000686789.1:n.845G>T
ENST00000686871.1:c.453G>T ENSP00000510118.1:p.Trp151Cys
ENST00000686893.1:c.453G>T ENSP00000508817.1:p.Trp151Cys
ENST00000686976.1:c.453G>T ENSP00000508600.1:p.Trp151Cys
ENST00000687299.1:c.453G>T ENSP00000509641.1:p.Trp151Cys
ENST00000687446.1:c.449+2489G>T ENSP00000510275.1:n.449+2489G>T
ENST00000687765.1:c.453G>T ENSP00000509321.1:p.Trp151Cys
ENST00000688325.1:c.453G>T ENSP00000509615.1:p.Trp151Cys
ENST00000688656.1:c.453G>T ENSP00000509912.1:p.Trp151Cys
ENST00000688837.1:c.453G>T ENSP00000509150.1:p.Trp151Cys
ENST00000689010.1:c.249G>T ENSP00000510457.1:p.Trp83Cys
ENST00000689392.1:c.515G>T ENSP00000510662.1:n.515G>T
ENST00000689588.1:n.651G>T
ENST00000689910.1:c.453G>T ENSP00000508650.1:p.Trp151Cys
ENST00000690729.1:c.114G>T ENSP00000508624.1:p.Trp38Cys
ENST00000690960.1:c.453G>T ENSP00000509460.1:p.Trp151Cys
ENST00000691007.1:c.453G>T ENSP00000510215.1:p.Trp151Cys
ENST00000691048.1:n.833G>T
ENST00000691112.1:c.453G>T ENSP00000509265.1:p.Trp151Cys
ENST00000692085.1:c.453G>T ENSP00000510341.1:p.Trp151Cys
ENST00000692395.1:c.168G>T ENSP00000509227.1:p.Trp56Cys
ENST00000693005.1:c.453G>T ENSP00000509597.1:p.Trp151Cys
ENST00000693090.1:c.168G>T ENSP00000510725.1:p.Trp56Cys
ENST00000693160.1:c.453G>T ENSP00000510063.1:p.Trp151Cys
ENST00000693492.1:c.453G>T ENSP00000509766.1:p.Trp151Cys
ENST00000693502.1:c.453G>T ENSP00000510444.1:p.Trp151Cys
ENST00000693544.1:c.168G>T ENSP00000509167.1:p.Trp56Cys
ENST00000693752.1:c.453G>T ENSP00000508677.1:p.Trp151Cys
ENST00000378473.9:c.453G>T MANE Select ENSP00000367734.5:p.Trp151Cys
ENST00000278655.8:c.453G>T ENSP00000278655.4:p.Trp151Cys
ENST00000378473.7:c.453G>T ENSP00000367734.3:p.Trp151Cys
ENST00000378493.5:c.453G>T ENSP00000367754.1:p.Trp151Cys
ENST00000378501.2:c.453G>T ENSP00000367762.2:p.Trp151Cys
ENST00000414679.6:c.453G>T ENSP00000390616.2:p.Trp151Cys
ENST00000492632.5:n.468G>T
NM_000933.3:c.453G>T NP_000924.3:p.Trp151Cys
NM_001172646.1:c.453G>T NP_001166117.1:p.Trp151Cys
NM_182797.2:c.453G>T NP_877949.2:p.Trp151Cys
XM_005260724.1:c.453G>T XP_005260781.1:p.Trp151Cys
XM_006723568.2:c.453G>T XP_006723631.1:p.Trp151Cys
XM_006723569.1:c.453G>T XP_006723632.1:p.Trp151Cys
XM_011529251.1:c.453G>T XP_011527553.1:p.Trp151Cys
XM_011529252.1:c.453G>T XP_011527554.1:p.Trp151Cys
XM_011529253.1:c.453G>T XP_011527555.1:p.Trp151Cys
XM_005260724.2:c.453G>T XP_005260781.1:p.Trp151Cys
XM_006723568.3:c.453G>T XP_006723631.1:p.Trp151Cys
XM_006723569.2:c.453G>T XP_006723632.1:p.Trp151Cys
XM_017027880.1:c.453G>T XP_016883369.1:p.Trp151Cys
XM_017027881.1:c.453G>T XP_016883370.1:p.Trp151Cys
XM_017027882.1:c.453G>T XP_016883371.1:p.Trp151Cys
XM_017027883.1:c.453G>T XP_016883372.1:p.Trp151Cys
XM_017027884.1:c.114G>T XP_016883373.1:p.Trp38Cys
XM_024451898.1:c.453G>T XP_024307666.1:p.Trp151Cys
XM_024451899.1:c.453G>T XP_024307667.1:p.Trp151Cys
XM_024451900.1:c.453G>T XP_024307668.1:p.Trp151Cys
XM_024451901.1:c.453G>T XP_024307669.1:p.Trp151Cys
XM_024451902.1:c.453G>T XP_024307670.1:p.Trp151Cys
XM_024451903.1:c.453G>T XP_024307671.1:p.Trp151Cys
XM_024451904.1:c.453G>T XP_024307672.1:p.Trp151Cys
XM_024451905.1:c.453G>T XP_024307673.1:p.Trp151Cys
XM_024451906.1:c.453G>T XP_024307674.1:p.Trp151Cys
XM_024451907.1:c.453G>T XP_024307675.1:p.Trp151Cys
XM_024451908.1:c.114G>T XP_024307676.1:p.Trp38Cys
XM_024451909.1:c.114G>T XP_024307677.1:p.Trp38Cys
XM_024451910.1:c.114G>T XP_024307678.1:p.Trp38Cys
NM_000933.4:c.453G>T NP_000924.3:p.Trp151Cys
NM_001377134.1:c.453G>T NP_001364063.1:p.Trp151Cys
NM_001377135.1:c.453G>T NP_001364064.1:p.Trp151Cys
NM_001377136.1:c.453G>T NP_001364065.1:p.Trp151Cys
NM_001377142.1:c.453G>T MANE Select NP_001364071.1:p.Trp151Cys
NM_001377143.1:c.453G>T NP_001364072.1:p.Trp151Cys
NM_182797.3:c.453G>T NP_877949.2:p.Trp151Cys
NM_001172646.2:c.453G>T NP_001166117.1:p.Trp151Cys
NM_001377134.2:c.453G>T NP_001364063.1:p.Trp151Cys
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