Canonical Allele Identifier: CA9547704
Community Standard Title: NM_001184900.3(CARD8):c.1375C>T (p.Arg459Trp)
Gene: CARD8 HGNC NCBI
ZNF114 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48211949G>A , CM000681.2:g.48211949G>A GRCh38
NC_000019.9:g.48715206G>A , CM000681.1:g.48715206G>A GRCh37
NC_000019.8:g.53407018G>A NCBI36
NG_029574.1:g.48998C>T
NG_029574.2:g.49321C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001184900.3:c.1375C>T (CARD8) MANE Select NP_001171829.1:p.Arg459Trp
ENST00000651546.1:c.1375C>T (CARD8) MANE Select ENSP00000499211.1:p.Arg459Trp
NM_001184900.1:c.1375C>T (CARD8) NP_001171829.1:p.Arg459Trp
NM_001184900.2:c.1375C>T (CARD8) NP_001171829.1:p.Arg459Trp
NM_001184901.1:c.1225C>T (CARD8) NP_001171830.1:p.Arg409Trp
NM_001184902.1:c.*54C>T (CARD8) NP_001171831.1:n.*54C>T
NM_001184902.2:c.*54C>T (CARD8) NP_001171831.1:n.*54C>T
NM_001184903.1:c.*54C>T (CARD8) NP_001171832.1:n.*54C>T
NM_001351782.1:c.1375C>T (CARD8) NP_001338711.1:p.Arg459Trp
NM_001351782.2:c.1375C>T (CARD8) NP_001338711.1:p.Arg459Trp
NM_001351783.1:c.1225C>T (CARD8) NP_001338712.1:p.Arg409Trp
NM_001351783.2:c.1225C>T (CARD8) NP_001338712.1:p.Arg409Trp
NM_001351784.1:c.1060C>T (CARD8) NP_001338713.1:p.Arg354Trp
NM_001351784.2:c.1060C>T (CARD8) NP_001338713.1:p.Arg354Trp
NM_001351786.1:c.1039C>T (CARD8) NP_001338715.1:p.Arg347Trp
NM_001351786.2:c.1039C>T (CARD8) NP_001338715.1:p.Arg347Trp
NM_001351787.1:c.1033+3391C>T (CARD8) NP_001338716.1:n.1033+3391C>T
NM_001351787.2:c.1033+3391C>T (CARD8) NP_001338716.1:n.1033+3391C>T
NM_001351788.1:c.*54C>T (CARD8) NP_001338717.1:n.*54C>T
NM_001351788.2:c.*54C>T (CARD8) NP_001338717.1:n.*54C>T
NM_001351789.1:c.*54C>T (CARD8) NP_001338718.1:n.*54C>T
NM_001351789.2:c.*54C>T (CARD8) NP_001338718.1:n.*54C>T
NM_001351790.1:c.*54C>T (CARD8) NP_001338719.1:n.*54C>T
NM_001351790.2:c.*54C>T (CARD8) NP_001338719.1:n.*54C>T
NM_001351791.1:c.*54C>T (CARD8) NP_001338720.1:n.*54C>T
NM_001351791.2:c.*54C>T (CARD8) NP_001338720.1:n.*54C>T
NM_001351792.1:c.*54C>T (CARD8) NP_001338721.1:n.*54C>T
NM_001351792.2:c.*54C>T (CARD8) NP_001338721.1:n.*54C>T
NM_001365950.1:c.1057C>T (CARD8) NP_001352879.1:p.Arg353Trp
NM_014959.3:c.1225C>T (CARD8) NP_055774.2:p.Arg409Trp
NM_014959.4:c.1225C>T (CARD8) NP_055774.2:p.Arg409Trp
NM_014959.5:c.1225C>T (CARD8) NP_055774.2:p.Arg409Trp
NR_033678.1:n.1335C>T (CARD8)
NR_033679.1:n.1377C>T (CARD8)
NR_033680.1:n.1193C>T (CARD8)
NR_147707.1:n.1292+3391C>T (CARD8)
ENST00000377461.8:n.1020C>T (CARD8)
ENST00000391898.7:c.1375C>T (CARD8) ENSP00000375767.3:p.Arg459Trp
ENST00000447740.6:c.1225C>T (CARD8) ENSP00000391248.2:p.Arg409Trp
ENST00000517510.5:c.*908+3391C>T (CARD8) ENSP00000428662.1:n.*908+3391C>T
ENST00000518450.5:c.128+3391C>T (CARD8)
ENST00000518622.5:c.*932C>T (CARD8) ENSP00000430057.1:n.*932C>T
ENST00000518979.5:c.*790C>T (CARD8) ENSP00000430495.1:n.*790C>T
ENST00000519302.6:c.*191C>T (CARD8) ENSP00000429741.1:n.*191C>T
ENST00000519646.5:c.*1230C>T (CARD8) ENSP00000430836.1:n.*1230C>T
ENST00000519940.5:c.1375C>T (CARD8) ENSP00000428883.1:p.Arg459Trp
ENST00000519940.6:c.1375C>T (CARD8) ENSP00000428883.1:p.Arg459Trp
ENST00000520015.5:c.*54C>T (CARD8) ENSP00000430747.1:n.*54C>T
ENST00000520153.5:c.1225C>T (CARD8) ENSP00000428736.1:p.Arg409Trp
ENST00000520753.5:c.*54C>T (CARD8) ENSP00000429839.1:n.*54C>T
ENST00000521415.5:c.*935C>T (CARD8) ENSP00000428862.1:n.*935C>T
ENST00000521613.5:c.1225C>T (CARD8) ENSP00000427858.1:p.Arg409Trp
ENST00000522051.5:n.3521C>T (CARD8)
ENST00000522773.5:c.*1091C>T (CARD8) ENSP00000429362.1:n.*1091C>T
ENST00000523579.5:c.551C>T (CARD8)
ENST00000597695.1:c.-211-25987G>A (ZNF114) ENSP00000472747.1:n.-211-25987G>A
XM_006723091.2:c.1375C>T (CARD8) XP_006723154.1:p.Arg459Trp
XM_006723091.4:c.1375C>T (CARD8) XP_006723154.1:p.Arg459Trp
XM_006723092.2:c.1375C>T (CARD8) XP_006723155.1:p.Arg459Trp
XM_006723092.4:c.1375C>T (CARD8) XP_006723155.1:p.Arg459Trp
XM_006723093.2:c.1375C>T (CARD8) XP_006723156.1:p.Arg459Trp
XM_006723093.4:c.1375C>T (CARD8) XP_006723156.1:p.Arg459Trp
XM_006723094.2:c.1372C>T (CARD8) XP_006723157.1:p.Arg458Trp
XM_006723094.4:c.1372C>T (CARD8) XP_006723157.1:p.Arg458Trp
XM_006723095.2:c.1225C>T (CARD8) XP_006723158.1:p.Arg409Trp
XM_006723096.2:c.1225C>T (CARD8) XP_006723159.1:p.Arg409Trp
XM_006723096.4:c.1225C>T (CARD8) XP_006723159.1:p.Arg409Trp
XM_006723097.2:c.1225C>T (CARD8) XP_006723160.1:p.Arg409Trp
XM_006723097.4:c.1225C>T (CARD8) XP_006723160.1:p.Arg409Trp
XM_006723098.2:c.1132C>T (CARD8) XP_006723161.1:p.Arg378Trp
XM_006723098.3:c.1132C>T (CARD8) XP_006723161.1:p.Arg378Trp
XM_006723099.2:c.1132C>T (CARD8) XP_006723162.1:p.Arg378Trp
XM_006723101.2:c.1060C>T (CARD8) XP_006723164.1:p.Arg354Trp
XM_006723102.2:c.1060C>T (CARD8) XP_006723165.1:p.Arg354Trp
XM_006723102.4:c.1060C>T (CARD8) XP_006723165.1:p.Arg354Trp
XM_006723103.2:c.1060C>T (CARD8) XP_006723166.1:p.Arg354Trp
XM_006723104.2:c.1057C>T (CARD8) XP_006723167.1:p.Arg353Trp
XM_006723104.3:c.1057C>T (CARD8) XP_006723167.1:p.Arg353Trp
XM_006723106.2:c.*54C>T (CARD8) XP_006723169.1:n.*54C>T
XM_006723106.4:c.*54C>T (CARD8) XP_006723169.1:n.*54C>T
XM_006723107.2:c.*54C>T (CARD8) XP_006723170.1:n.*54C>T
XM_006723107.3:c.*54C>T (CARD8) XP_006723170.1:n.*54C>T
XM_006723109.2:c.*54C>T (CARD8) XP_006723172.1:n.*54C>T
XM_006723109.3:c.*54C>T (CARD8) XP_006723172.1:n.*54C>T
XM_011526641.1:c.1375C>T (CARD8) XP_011524943.1:p.Arg459Trp
XM_011526641.3:c.1375C>T (CARD8) XP_011524943.1:p.Arg459Trp
XM_011526642.1:c.1375C>T (CARD8) XP_011524944.1:p.Arg459Trp
XM_011526643.1:c.1375C>T (CARD8) XP_011524945.1:p.Arg459Trp
XM_011526643.3:c.1375C>T (CARD8) XP_011524945.1:p.Arg459Trp
XM_011526644.1:c.1375C>T (CARD8) XP_011524946.1:p.Arg459Trp
XM_011526644.3:c.1375C>T (CARD8) XP_011524946.1:p.Arg459Trp
XM_011526645.1:c.1375C>T (CARD8) XP_011524947.1:p.Arg459Trp
XM_011526646.1:c.1156C>T (CARD8) XP_011524948.1:p.Arg386Trp
XM_011526646.3:c.1156C>T (CARD8) XP_011524948.1:p.Arg386Trp
XM_011526647.1:c.1156C>T (CARD8) XP_011524949.1:p.Arg386Trp
XM_011526647.3:c.1156C>T (CARD8) XP_011524949.1:p.Arg386Trp
XM_011526648.1:c.1153C>T (CARD8) XP_011524950.1:p.Arg385Trp
XM_011526648.3:c.1153C>T (CARD8) XP_011524950.1:p.Arg385Trp
XM_011526649.1:c.1039C>T (CARD8) XP_011524951.1:p.Arg347Trp
XM_011526650.1:c.*27+3391C>T (CARD8) XP_011524952.1:n.*27+3391C>T
XM_011526650.2:c.*27+3391C>T (CARD8) XP_011524952.1:n.*27+3391C>T
XM_011526651.1:c.1033+3391C>T (CARD8) XP_011524953.1:n.1033+3391C>T
XM_011526652.1:c.*27+3391C>T (CARD8) XP_011524954.1:n.*27+3391C>T
XM_011526653.1:c.*54C>T (CARD8) XP_011524955.1:n.*54C>T
XM_017026482.2:c.1372C>T (CARD8) XP_016881971.1:p.Arg458Trp
XM_017026483.2:c.1225C>T (CARD8) XP_016881972.1:p.Arg409Trp
XM_017026484.2:c.1222C>T (CARD8) XP_016881973.1:p.Arg408Trp
XM_017026485.1:c.1348+3391C>T (CARD8) XP_016881974.1:n.1348+3391C>T
XM_017026487.2:c.1039C>T (CARD8) XP_016881976.1:p.Arg347Trp
XM_017026488.2:c.1039C>T (CARD8) XP_016881977.1:p.Arg347Trp
XM_017026492.2:c.*54C>T (CARD8) XP_016881981.1:n.*54C>T
XM_017026498.1:c.*54C>T (CARD8) XP_016881987.1:n.*54C>T
XM_017026499.1:c.*54C>T (CARD8) XP_016881988.1:n.*54C>T
XM_024451421.1:c.1132C>T (CARD8) XP_024307189.1:p.Arg378Trp
XM_024451422.1:c.1129C>T (CARD8) XP_024307190.1:p.Arg377Trp
XM_024451423.1:c.1060C>T (CARD8) XP_024307191.1:p.Arg354Trp
XM_024451424.1:c.1045C>T (CARD8) XP_024307192.1:p.Arg349Trp
XM_024451425.1:c.1045C>T (CARD8) XP_024307193.1:p.Arg349Trp
XR_001753636.1:n.1585+3391C>T (CARD8)
XR_001753637.2:n.1813+3391C>T (CARD8)
XR_430193.1:n.1762C>T (CARD8)
XR_430193.3:n.1762C>T (CARD8)
XR_935766.1:n.1585+3391C>T (CARD8)
XR_935767.1:n.1585+3391C>T (CARD8)
XR_935768.1:n.1585+3391C>T (CARD8)
XR_935769.1:n.1585+3391C>T (CARD8)
XR_935770.1:n.1585+3391C>T (CARD8)
XR_935771.1:n.1585+3391C>T (CARD8)
XR_935772.1:n.1443+3391C>T (CARD8)
XR_935773.1:n.1876C>T (CARD8)
XR_935774.1:n.1317+3391C>T (CARD8)