Linked Data
ClinVar Variation Id:
2409418
dbSNP Id:
rs758963965
ExAC:
19:48725086 G / C
gnomAD v2:
19-48725086-G-C
gnomAD v3:
19-48221829-G-C
gnomAD v4:
19-48221829-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48221829G>C , CM000681.2:g.48221829G>C | GRCh38 |
| NC_000019.9:g.48725086G>C , CM000681.1:g.48725086G>C | GRCh37 |
| NC_000019.8:g.53416898G>C | NCBI36 |
| NG_029574.1:g.39118C>G | |
| NG_029574.2:g.39441C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519940.6:c.1062C>G (CARD8) | ENSP00000428883.1:p.Phe354Leu | |
| ENST00000651546.1:c.1062C>G (CARD8) MANE Select | ENSP00000499211.1:p.Phe354Leu | |
| ENST00000377461.8:n.949-6445C>G (CARD8) | ||
| ENST00000391898.7:c.1062C>G (CARD8) | ENSP00000375767.3:p.Phe354Leu | |
| ENST00000447740.6:c.912C>G (CARD8) | ENSP00000391248.2:p.Phe304Leu | |
| ENST00000517510.5:c.*622C>G (CARD8) | ENSP00000428662.1:n.*622C>G | |
| ENST00000518622.5:c.*619C>G (CARD8) | ENSP00000430057.1:n.*619C>G | |
| ENST00000518979.5:c.*619C>G (CARD8) | ENSP00000430495.1:n.*619C>G | |
| ENST00000519302.6:c.*20C>G (CARD8) | ENSP00000429741.1:n.*20C>G | |
| ENST00000519646.5:c.*917C>G (CARD8) | ENSP00000430836.1:n.*917C>G | |
| ENST00000519940.5:c.1062C>G (CARD8) | ENSP00000428883.1:p.Phe354Leu | |
| ENST00000520015.5:c.1062C>G (CARD8) | ENSP00000430747.1:p.Phe354Leu | |
| ENST00000520153.5:c.912C>G (CARD8) | ENSP00000428736.1:p.Phe304Leu | |
| ENST00000520753.5:c.1062C>G (CARD8) | ENSP00000429839.1:p.Phe354Leu | |
| ENST00000521415.5:c.*622C>G (CARD8) | ENSP00000428862.1:n.*622C>G | |
| ENST00000521613.5:c.912C>G (CARD8) | ENSP00000427858.1:p.Phe304Leu | |
| ENST00000522051.5:n.3208C>G (CARD8) | ||
| ENST00000522773.5:c.*778C>G (CARD8) | ENSP00000429362.1:n.*778C>G | |
| ENST00000523579.5:c.238C>G (CARD8) | ||
| ENST00000523668.1:n.237C>G (CARD8) | ||
| ENST00000597695.1:c.-211-16107G>C (ZNF114) | ENSP00000472747.1:n.-211-16107G>C | |
| NM_001184900.1:c.1062C>G (CARD8) | NP_001171829.1:p.Phe354Leu | |
| NM_001184901.1:c.912C>G (CARD8) | NP_001171830.1:p.Phe304Leu | |
| NM_001184902.1:c.1062C>G (CARD8) | NP_001171831.1:p.Phe354Leu | |
| NM_001184903.1:c.1062C>G (CARD8) | NP_001171832.1:p.Phe354Leu | |
| NM_014959.3:c.912C>G (CARD8) | NP_055774.2:p.Phe304Leu | |
| NR_033678.1:n.1022C>G (CARD8) | ||
| NR_033679.1:n.1064C>G (CARD8) | ||
| NR_033680.1:n.1022C>G (CARD8) | ||
| XM_006723091.2:c.1062C>G (CARD8) | XP_006723154.1:p.Phe354Leu | |
| XM_006723092.2:c.1062C>G (CARD8) | XP_006723155.1:p.Phe354Leu | |
| XM_006723093.2:c.1062C>G (CARD8) | XP_006723156.1:p.Phe354Leu | |
| XM_006723094.2:c.1059C>G (CARD8) | XP_006723157.1:p.Phe353Leu | |
| XM_006723095.2:c.912C>G (CARD8) | XP_006723158.1:p.Phe304Leu | |
| XM_006723096.2:c.912C>G (CARD8) | XP_006723159.1:p.Phe304Leu | |
| XM_006723097.2:c.912C>G (CARD8) | XP_006723160.1:p.Phe304Leu | |
| XM_006723098.2:c.819C>G (CARD8) | XP_006723161.1:p.Phe273Leu | |
| XM_006723099.2:c.819C>G (CARD8) | XP_006723162.1:p.Phe273Leu | |
| XM_006723101.2:c.747C>G (CARD8) | XP_006723164.1:p.Phe249Leu | |
| XM_006723102.2:c.747C>G (CARD8) | XP_006723165.1:p.Phe249Leu | |
| XM_006723103.2:c.747C>G (CARD8) | XP_006723166.1:p.Phe249Leu | |
| XM_006723104.2:c.744C>G (CARD8) | XP_006723167.1:p.Phe248Leu | |
| XM_006723106.2:c.1062C>G (CARD8) | XP_006723169.1:p.Phe354Leu | |
| XM_006723107.2:c.1036-6445C>G (CARD8) | XP_006723170.1:n.1036-6445C>G | |
| XM_006723109.2:c.744C>G (CARD8) | XP_006723172.1:p.Phe248Leu | |
| XM_011526641.1:c.1062C>G (CARD8) | XP_011524943.1:p.Phe354Leu | |
| XM_011526642.1:c.1062C>G (CARD8) | XP_011524944.1:p.Phe354Leu | |
| XM_011526643.1:c.1062C>G (CARD8) | XP_011524945.1:p.Phe354Leu | |
| XM_011526644.1:c.1062C>G (CARD8) | XP_011524946.1:p.Phe354Leu | |
| XM_011526645.1:c.1062C>G (CARD8) | XP_011524947.1:p.Phe354Leu | |
| XM_011526646.1:c.843C>G (CARD8) | XP_011524948.1:p.Phe281Leu | |
| XM_011526647.1:c.843C>G (CARD8) | XP_011524949.1:p.Phe281Leu | |
| XM_011526648.1:c.840C>G (CARD8) | XP_011524950.1:p.Phe280Leu | |
| XM_011526649.1:c.726C>G (CARD8) | XP_011524951.1:p.Phe242Leu | |
| XM_011526650.1:c.1062C>G (CARD8) | XP_011524952.1:p.Phe354Leu | |
| XM_011526651.1:c.747C>G (CARD8) | XP_011524953.1:p.Phe249Leu | |
| XM_011526652.1:c.1036-6445C>G (CARD8) | XP_011524954.1:n.1036-6445C>G | |
| XM_011526653.1:c.840C>G (CARD8) | XP_011524955.1:p.Phe280Leu | |
| XR_430193.1:n.1449C>G (CARD8) | ||
| XR_935766.1:n.1299C>G (CARD8) | ||
| XR_935767.1:n.1299C>G (CARD8) | ||
| XR_935768.1:n.1299C>G (CARD8) | ||
| XR_935769.1:n.1299C>G (CARD8) | ||
| XR_935770.1:n.1299C>G (CARD8) | ||
| XR_935771.1:n.1299C>G (CARD8) | ||
| XR_935772.1:n.1299C>G (CARD8) | ||
| XR_935773.1:n.1563C>G (CARD8) | ||
| XR_935774.1:n.1273-6445C>G (CARD8) | ||
| NM_001184900.2:c.1062C>G (CARD8) | NP_001171829.1:p.Phe354Leu | |
| NM_001351782.1:c.1062C>G (CARD8) | NP_001338711.1:p.Phe354Leu | |
| NM_001351783.1:c.912C>G (CARD8) | NP_001338712.1:p.Phe304Leu | |
| NM_001351784.1:c.747C>G (CARD8) | NP_001338713.1:p.Phe249Leu | |
| NM_001351786.1:c.726C>G (CARD8) | NP_001338715.1:p.Phe242Leu | |
| NM_001351787.1:c.747C>G (CARD8) | NP_001338716.1:p.Phe249Leu | |
| NM_001351788.1:c.912C>G (CARD8) | NP_001338717.1:p.Phe304Leu | |
| NM_001351789.1:c.912C>G (CARD8) | NP_001338718.1:p.Phe304Leu | |
| NM_001351790.1:c.819C>G (CARD8) | NP_001338719.1:p.Phe273Leu | |
| NM_001351791.1:c.747C>G (CARD8) | NP_001338720.1:p.Phe249Leu | |
| NM_001351792.1:c.747C>G (CARD8) | NP_001338721.1:p.Phe249Leu | |
| NM_001365950.1:c.744C>G (CARD8) | NP_001352879.1:p.Phe248Leu | |
| NM_014959.4:c.912C>G (CARD8) | NP_055774.2:p.Phe304Leu | |
| NR_147707.1:n.1248-6445C>G (CARD8) | ||
| XM_006723091.4:c.1062C>G (CARD8) | XP_006723154.1:p.Phe354Leu | |
| XM_006723092.4:c.1062C>G (CARD8) | XP_006723155.1:p.Phe354Leu | |
| XM_006723093.4:c.1062C>G (CARD8) | XP_006723156.1:p.Phe354Leu | |
| XM_006723094.4:c.1059C>G (CARD8) | XP_006723157.1:p.Phe353Leu | |
| XM_006723096.4:c.912C>G (CARD8) | XP_006723159.1:p.Phe304Leu | |
| XM_006723097.4:c.912C>G (CARD8) | XP_006723160.1:p.Phe304Leu | |
| XM_006723098.3:c.819C>G (CARD8) | XP_006723161.1:p.Phe273Leu | |
| XM_006723102.4:c.747C>G (CARD8) | XP_006723165.1:p.Phe249Leu | |
| XM_006723104.3:c.744C>G (CARD8) | XP_006723167.1:p.Phe248Leu | |
| XM_006723106.4:c.1062C>G (CARD8) | XP_006723169.1:p.Phe354Leu | |
| XM_006723107.3:c.1036-6445C>G (CARD8) | XP_006723170.1:n.1036-6445C>G | |
| XM_006723109.3:c.744C>G (CARD8) | XP_006723172.1:p.Phe248Leu | |
| XM_011526641.3:c.1062C>G (CARD8) | XP_011524943.1:p.Phe354Leu | |
| XM_011526643.3:c.1062C>G (CARD8) | XP_011524945.1:p.Phe354Leu | |
| XM_011526644.3:c.1062C>G (CARD8) | XP_011524946.1:p.Phe354Leu | |
| XM_011526646.3:c.843C>G (CARD8) | XP_011524948.1:p.Phe281Leu | |
| XM_011526647.3:c.843C>G (CARD8) | XP_011524949.1:p.Phe281Leu | |
| XM_011526648.3:c.840C>G (CARD8) | XP_011524950.1:p.Phe280Leu | |
| XM_011526650.2:c.1062C>G (CARD8) | XP_011524952.1:p.Phe354Leu | |
| XM_017026482.2:c.1059C>G (CARD8) | XP_016881971.1:p.Phe353Leu | |
| XM_017026483.2:c.912C>G (CARD8) | XP_016881972.1:p.Phe304Leu | |
| XM_017026484.2:c.909C>G (CARD8) | XP_016881973.1:p.Phe303Leu | |
| XM_017026485.1:c.1062C>G (CARD8) | XP_016881974.1:p.Phe354Leu | |
| XM_017026487.2:c.726C>G (CARD8) | XP_016881976.1:p.Phe242Leu | |
| XM_017026488.2:c.726C>G (CARD8) | XP_016881977.1:p.Phe242Leu | |
| XM_017026492.2:c.912C>G (CARD8) | XP_016881981.1:p.Phe304Leu | |
| XM_017026498.1:c.744C>G (CARD8) | XP_016881987.1:p.Phe248Leu | |
| XM_017026499.1:c.729C>G (CARD8) | XP_016881988.1:p.Phe243Leu | |
| XM_024451421.1:c.819C>G (CARD8) | XP_024307189.1:p.Phe273Leu | |
| XM_024451422.1:c.816C>G (CARD8) | XP_024307190.1:p.Phe272Leu | |
| XM_024451423.1:c.747C>G (CARD8) | XP_024307191.1:p.Phe249Leu | |
| XM_024451424.1:c.732C>G (CARD8) | XP_024307192.1:p.Phe244Leu | |
| XM_024451425.1:c.732C>G (CARD8) | XP_024307193.1:p.Phe244Leu | |
| XR_001753636.1:n.1299C>G (CARD8) | ||
| XR_001753637.2:n.1669C>G (CARD8) | ||
| XR_430193.3:n.1449C>G (CARD8) | ||
| NM_001184900.3:c.1062C>G (CARD8) MANE Select | NP_001171829.1:p.Phe354Leu | |
| NM_001184902.2:c.1062C>G (CARD8) | NP_001171831.1:p.Phe354Leu | |
| NM_001351782.2:c.1062C>G (CARD8) | NP_001338711.1:p.Phe354Leu | |
| NM_001351783.2:c.912C>G (CARD8) | NP_001338712.1:p.Phe304Leu | |
| NM_001351784.2:c.747C>G (CARD8) | NP_001338713.1:p.Phe249Leu | |
| NM_001351786.2:c.726C>G (CARD8) | NP_001338715.1:p.Phe242Leu | |
| NM_001351788.2:c.912C>G (CARD8) | NP_001338717.1:p.Phe304Leu | |
| NM_001351789.2:c.912C>G (CARD8) | NP_001338718.1:p.Phe304Leu | |
| NM_001351790.2:c.819C>G (CARD8) | NP_001338719.1:p.Phe273Leu | |
| NM_001351791.2:c.747C>G (CARD8) | NP_001338720.1:p.Phe249Leu | |
| NM_001351792.2:c.747C>G (CARD8) | NP_001338721.1:p.Phe249Leu | |
| NM_014959.5:c.912C>G (CARD8) | NP_055774.2:p.Phe304Leu | |
| NM_001351787.2:c.747C>G (CARD8) | NP_001338716.1:p.Phe249Leu |