Canonical Allele Identifier: CA408216334
Community Standard Title: NM_001377142.1(PLCB4):c.915C>G (p.Phe305Leu)
Gene: PLCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.9384262C>G , CM000682.2:g.9384262C>G GRCh38
NC_000020.10:g.9364909C>G , CM000682.1:g.9364909C>G GRCh37
NC_000020.9:g.9312909C>G NCBI36
NG_032790.1:g.320209C>G
NG_032790.2:g.320209C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001377142.1:c.915C>G MANE Select NP_001364071.1:p.Phe305Leu
ENST00000378473.9:c.915C>G MANE Select ENSP00000367734.5:p.Phe305Leu
NM_000933.3:c.915C>G NP_000924.3:p.Phe305Leu
NM_000933.4:c.915C>G NP_000924.3:p.Phe305Leu
NM_001172646.1:c.915C>G NP_001166117.1:p.Phe305Leu
NM_001172646.2:c.915C>G NP_001166117.1:p.Phe305Leu
NM_001377134.1:c.915C>G NP_001364063.1:p.Phe305Leu
NM_001377134.2:c.915C>G NP_001364063.1:p.Phe305Leu
NM_001377135.1:c.915C>G NP_001364064.1:p.Phe305Leu
NM_001377136.1:c.915C>G NP_001364065.1:p.Phe305Leu
NM_001377143.1:c.915C>G NP_001364072.1:p.Phe305Leu
NM_182797.2:c.915C>G NP_877949.2:p.Phe305Leu
NM_182797.3:c.915C>G NP_877949.2:p.Phe305Leu
ENST00000278655.8:c.915C>G ENSP00000278655.4:p.Phe305Leu
ENST00000278655.9:c.861C>G ENSP00000278655.5:p.Phe287Leu
ENST00000378473.7:c.915C>G ENSP00000367734.3:p.Phe305Leu
ENST00000378493.5:c.915C>G ENSP00000367754.1:p.Phe305Leu
ENST00000378493.6:c.915C>G ENSP00000367754.1:p.Phe305Leu
ENST00000378501.2:c.915C>G ENSP00000367762.2:p.Phe305Leu
ENST00000378501.3:c.915C>G ENSP00000367762.2:p.Phe305Leu
ENST00000414679.6:c.915C>G ENSP00000390616.2:p.Phe305Leu
ENST00000414679.7:c.915C>G ENSP00000390616.3:p.Phe305Leu
ENST00000464199.5:n.692C>G
ENST00000473151.5:n.606C>G
ENST00000482123.1:n.606C>G
ENST00000492632.5:n.930C>G
ENST00000684997.1:c.915C>G ENSP00000509144.1:p.Phe305Leu
ENST00000685110.1:c.915C>G ENSP00000510632.1:p.Phe305Leu
ENST00000685148.1:c.915C>G ENSP00000510512.1:p.Phe305Leu
ENST00000685298.1:c.915C>G ENSP00000509390.1:p.Phe305Leu
ENST00000685310.1:c.915C>G ENSP00000510124.1:p.Phe305Leu
ENST00000685446.1:n.1113C>G
ENST00000685482.1:c.915C>G ENSP00000510734.1:p.Phe305Leu
ENST00000685568.1:c.915C>G ENSP00000508726.1:p.Phe305Leu
ENST00000685823.1:c.915C>G ENSP00000508676.1:p.Phe305Leu
ENST00000685859.1:c.915C>G ENSP00000510302.1:p.Phe305Leu
ENST00000686117.1:c.630C>G ENSP00000509409.1:p.Phe210Leu
ENST00000686163.1:c.915C>G ENSP00000508442.1:p.Phe305Leu
ENST00000686253.1:c.861C>G ENSP00000510690.1:p.Phe287Leu
ENST00000686313.1:c.915C>G ENSP00000508595.1:p.Phe305Leu
ENST00000686532.1:n.1113C>G
ENST00000686584.1:c.915C>G ENSP00000508467.1:p.Phe305Leu
ENST00000686871.1:c.915C>G ENSP00000510118.1:p.Phe305Leu
ENST00000686893.1:c.915C>G ENSP00000508817.1:p.Phe305Leu
ENST00000686976.1:c.915C>G ENSP00000508600.1:p.Phe305Leu
ENST00000687299.1:c.569-60C>G ENSP00000509641.1:n.569-60C>G
ENST00000687446.1:c.861C>G ENSP00000510275.1:p.Phe287Leu
ENST00000687765.1:c.915C>G ENSP00000509321.1:p.Phe305Leu
ENST00000688325.1:c.915C>G ENSP00000509615.1:p.Phe305Leu
ENST00000688656.1:c.915C>G ENSP00000509912.1:p.Phe305Leu
ENST00000688837.1:c.915C>G ENSP00000509150.1:p.Phe305Leu
ENST00000689010.1:c.711C>G ENSP00000510457.1:p.Phe237Leu
ENST00000689392.1:c.977C>G ENSP00000510662.1:n.977C>G
ENST00000689588.1:n.1113C>G
ENST00000689910.1:c.915C>G ENSP00000508650.1:p.Phe305Leu
ENST00000690729.1:c.576C>G ENSP00000508624.1:p.Phe192Leu
ENST00000690960.1:c.915C>G ENSP00000509460.1:p.Phe305Leu
ENST00000691007.1:c.915C>G ENSP00000510215.1:p.Phe305Leu
ENST00000691112.1:c.915C>G ENSP00000509265.1:p.Phe305Leu
ENST00000692085.1:c.915C>G ENSP00000510341.1:p.Phe305Leu
ENST00000692395.1:c.630C>G ENSP00000509227.1:p.Phe210Leu
ENST00000693005.1:c.915C>G ENSP00000509597.1:p.Phe305Leu
ENST00000693090.1:c.630C>G ENSP00000510725.1:p.Phe210Leu
ENST00000693160.1:c.915C>G ENSP00000510063.1:p.Phe305Leu
ENST00000693492.1:c.915C>G ENSP00000509766.1:p.Phe305Leu
ENST00000693502.1:c.756C>G ENSP00000510444.1:p.Phe252Leu
ENST00000693544.1:c.630C>G ENSP00000509167.1:p.Phe210Leu
ENST00000693752.1:c.915C>G ENSP00000508677.1:p.Phe305Leu
XM_005260724.1:c.915C>G XP_005260781.1:p.Phe305Leu
XM_005260724.2:c.915C>G XP_005260781.1:p.Phe305Leu
XM_005260728.1:c.111C>G XP_005260785.1:p.Phe37Leu
XM_005260728.2:c.111C>G XP_005260785.1:p.Phe37Leu
XM_006723568.2:c.915C>G XP_006723631.1:p.Phe305Leu
XM_006723568.3:c.915C>G XP_006723631.1:p.Phe305Leu
XM_006723569.1:c.915C>G XP_006723632.1:p.Phe305Leu
XM_006723569.2:c.915C>G XP_006723632.1:p.Phe305Leu
XM_011529251.1:c.915C>G XP_011527553.1:p.Phe305Leu
XM_011529252.1:c.915C>G XP_011527554.1:p.Phe305Leu
XM_011529253.1:c.915C>G XP_011527555.1:p.Phe305Leu
XM_011529254.1:c.435C>G XP_011527556.1:p.Phe145Leu
XM_011529254.2:c.435C>G XP_011527556.1:p.Phe145Leu
XM_017027880.1:c.915C>G XP_016883369.1:p.Phe305Leu
XM_017027881.1:c.915C>G XP_016883370.1:p.Phe305Leu
XM_017027882.1:c.756C>G XP_016883371.1:p.Phe252Leu
XM_017027883.1:c.756C>G XP_016883372.1:p.Phe252Leu
XM_017027884.1:c.576C>G XP_016883373.1:p.Phe192Leu
XM_017027886.1:c.111C>G XP_016883375.1:p.Phe37Leu
XM_024451898.1:c.915C>G XP_024307666.1:p.Phe305Leu
XM_024451899.1:c.915C>G XP_024307667.1:p.Phe305Leu
XM_024451900.1:c.915C>G XP_024307668.1:p.Phe305Leu
XM_024451901.1:c.915C>G XP_024307669.1:p.Phe305Leu
XM_024451902.1:c.915C>G XP_024307670.1:p.Phe305Leu
XM_024451903.1:c.915C>G XP_024307671.1:p.Phe305Leu
XM_024451904.1:c.915C>G XP_024307672.1:p.Phe305Leu
XM_024451905.1:c.915C>G XP_024307673.1:p.Phe305Leu
XM_024451906.1:c.915C>G XP_024307674.1:p.Phe305Leu
XM_024451907.1:c.915C>G XP_024307675.1:p.Phe305Leu
XM_024451908.1:c.576C>G XP_024307676.1:p.Phe192Leu
XM_024451909.1:c.576C>G XP_024307677.1:p.Phe192Leu
XM_024451910.1:c.576C>G XP_024307678.1:p.Phe192Leu