Linked Data
ClinVar Variation Id:
252559
dbSNP Id:
rs879255364
gnomAD v2:
19-48741719-C-T
gnomAD v4:
19-48238462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48238462C>T , CM000681.2:g.48238462C>T | GRCh38 |
| NC_000019.9:g.48741719C>T , CM000681.1:g.48741719C>T | GRCh37 |
| NC_000019.8:g.53433531C>T | NCBI36 |
| NG_029574.1:g.22485G>A | |
| NG_029574.2:g.22808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519940.6:c.130G>A (CARD8) | ENSP00000428883.1:p.Val44Ile | |
| ENST00000651546.1:c.130G>A (CARD8) MANE Select | ENSP00000499211.1:p.Val44Ile | |
| ENST00000391898.7:c.130G>A (CARD8) | ENSP00000375767.3:p.Val44Ile | |
| ENST00000447740.6:c.59+2500G>A (CARD8) | ENSP00000391248.2:n.59+2500G>A | |
| ENST00000517510.5:c.59+2500G>A (CARD8) | ENSP00000428662.1:n.59+2500G>A | |
| ENST00000517778.5:n.265G>A (CARD8) | ||
| ENST00000518596.5:n.245G>A (CARD8) | ||
| ENST00000518622.5:c.59+2500G>A (CARD8) | ENSP00000430057.1:n.59+2500G>A | |
| ENST00000518979.5:c.59+2500G>A (CARD8) | ENSP00000430495.1:n.59+2500G>A | |
| ENST00000519302.6:c.59+2500G>A (CARD8) | ENSP00000429741.1:n.59+2500G>A | |
| ENST00000519332.5:c.130G>A (CARD8) | ENSP00000430108.1:p.Val44Ile | |
| ENST00000519646.5:c.130G>A (CARD8) | ENSP00000430836.1:p.Val44Ile | |
| ENST00000519940.5:c.130G>A (CARD8) | ENSP00000428883.1:p.Val44Ile | |
| ENST00000520007.5:c.130G>A (CARD8) | ENSP00000427727.1:p.Val44Ile | |
| ENST00000520015.5:c.130G>A (CARD8) | ENSP00000430747.1:p.Val44Ile | |
| ENST00000520153.5:c.59+2500G>A (CARD8) | ENSP00000428736.1:n.59+2500G>A | |
| ENST00000520753.5:c.130G>A (CARD8) | ENSP00000429839.1:p.Val44Ile | |
| ENST00000521092.5:n.289+2500G>A (CARD8) | ||
| ENST00000521415.5:c.130G>A (CARD8) | ENSP00000428862.1:p.Val44Ile | |
| ENST00000521613.5:c.59+2500G>A (CARD8) | ENSP00000427858.1:n.59+2500G>A | |
| ENST00000522051.5:n.367G>A (CARD8) | ||
| ENST00000522068.5:n.350+2500G>A (CARD8) | ||
| ENST00000522431.5:c.130G>A (CARD8) | ENSP00000427922.1:p.Val44Ile | |
| ENST00000522773.5:c.130G>A (CARD8) | ENSP00000429362.1:p.Val44Ile | |
| ENST00000522889.5:c.59+2500G>A (CARD8) | ENSP00000430567.1:n.59+2500G>A | |
| ENST00000597695.1:c.-162+477C>T (ZNF114) | ENSP00000472747.1:n.-162+477C>T | |
| NM_001184900.1:c.130G>A (CARD8) | NP_001171829.1:p.Val44Ile | |
| NM_001184901.1:c.59+2500G>A (CARD8) | NP_001171830.1:n.59+2500G>A | |
| NM_001184902.1:c.130G>A (CARD8) | NP_001171831.1:p.Val44Ile | |
| NM_001184903.1:c.130G>A (CARD8) | NP_001171832.1:p.Val44Ile | |
| NM_001184904.1:c.130G>A (CARD8) | NP_001171833.1:p.Val44Ile | |
| NM_014959.3:c.59+2500G>A (CARD8) | NP_055774.2:n.59+2500G>A | |
| NR_033678.1:n.213+2500G>A (CARD8) | ||
| NR_033679.1:n.173G>A (CARD8) | ||
| NR_033680.1:n.213+2500G>A (CARD8) | ||
| XM_006723091.2:c.130G>A (CARD8) | XP_006723154.1:p.Val44Ile | |
| XM_006723092.2:c.130G>A (CARD8) | XP_006723155.1:p.Val44Ile | |
| XM_006723093.2:c.130G>A (CARD8) | XP_006723156.1:p.Val44Ile | |
| XM_006723094.2:c.130G>A (CARD8) | XP_006723157.1:p.Val44Ile | |
| XM_006723095.2:c.59+2500G>A (CARD8) | XP_006723158.1:n.59+2500G>A | |
| XM_006723096.2:c.59+2500G>A (CARD8) | XP_006723159.1:n.59+2500G>A | |
| XM_006723097.2:c.59+2500G>A (CARD8) | XP_006723160.1:n.59+2500G>A | |
| XM_006723098.2:c.-73G>A (CARD8) | XP_006723161.1:n.-73G>A | |
| XM_006723099.2:c.-73G>A (CARD8) | XP_006723162.1:n.-73G>A | |
| XM_006723101.2:c.-66+2500G>A (CARD8) | XP_006723164.1:n.-66+2500G>A | |
| XM_006723102.2:c.-66+2500G>A (CARD8) | XP_006723165.1:n.-66+2500G>A | |
| XM_006723103.2:c.-66+2500G>A (CARD8) | XP_006723166.1:n.-66+2500G>A | |
| XM_006723104.2:c.-66+2500G>A (CARD8) | XP_006723167.1:n.-66+2500G>A | |
| XM_006723106.2:c.130G>A (CARD8) | XP_006723169.1:p.Val44Ile | |
| XM_006723107.2:c.130G>A (CARD8) | XP_006723170.1:p.Val44Ile | |
| XM_006723109.2:c.-66+2500G>A (CARD8) | XP_006723172.1:n.-66+2500G>A | |
| XM_006723110.2:c.130G>A (CARD8) | XP_006723173.1:p.Val44Ile | |
| XM_011526641.1:c.130G>A (CARD8) | XP_011524943.1:p.Val44Ile | |
| XM_011526642.1:c.130G>A (CARD8) | XP_011524944.1:p.Val44Ile | |
| XM_011526643.1:c.130G>A (CARD8) | XP_011524945.1:p.Val44Ile | |
| XM_011526644.1:c.130G>A (CARD8) | XP_011524946.1:p.Val44Ile | |
| XM_011526645.1:c.130G>A (CARD8) | XP_011524947.1:p.Val44Ile | |
| XM_011526646.1:c.-140G>A (CARD8) | XP_011524948.1:n.-140G>A | |
| XM_011526647.1:c.-140G>A (CARD8) | XP_011524949.1:n.-140G>A | |
| XM_011526648.1:c.-140G>A (CARD8) | XP_011524950.1:n.-140G>A | |
| XM_011526649.1:c.-359G>A (CARD8) | XP_011524951.1:n.-359G>A | |
| XM_011526650.1:c.130G>A (CARD8) | XP_011524952.1:p.Val44Ile | |
| XM_011526651.1:c.-66+2500G>A (CARD8) | XP_011524953.1:n.-66+2500G>A | |
| XM_011526652.1:c.130G>A (CARD8) | XP_011524954.1:p.Val44Ile | |
| XM_011526653.1:c.-140G>A (CARD8) | XP_011524955.1:n.-140G>A | |
| XR_430193.1:n.367G>A (CARD8) | ||
| XR_935766.1:n.367G>A (CARD8) | ||
| XR_935767.1:n.367G>A (CARD8) | ||
| XR_935768.1:n.367G>A (CARD8) | ||
| XR_935769.1:n.367G>A (CARD8) | ||
| XR_935770.1:n.367G>A (CARD8) | ||
| XR_935771.1:n.367G>A (CARD8) | ||
| XR_935772.1:n.367G>A (CARD8) | ||
| XR_935773.1:n.367G>A (CARD8) | ||
| XR_935774.1:n.367G>A (CARD8) | ||
| NM_001184900.2:c.130G>A (CARD8) | NP_001171829.1:p.Val44Ile | |
| NM_001351782.1:c.130G>A (CARD8) | NP_001338711.1:p.Val44Ile | |
| NM_001351783.1:c.59+2500G>A (CARD8) | NP_001338712.1:n.59+2500G>A | |
| NM_001351784.1:c.-66+2500G>A (CARD8) | NP_001338713.1:n.-66+2500G>A | |
| NM_001351786.1:c.-280+2500G>A (CARD8) | NP_001338715.1:n.-280+2500G>A | |
| NM_001351787.1:c.-66+2500G>A (CARD8) | NP_001338716.1:n.-66+2500G>A | |
| NM_001351788.1:c.59+2500G>A (CARD8) | NP_001338717.1:n.59+2500G>A | |
| NM_001351789.1:c.59+2500G>A (CARD8) | NP_001338718.1:n.59+2500G>A | |
| NM_001351790.1:c.-73G>A (CARD8) | NP_001338719.1:n.-73G>A | |
| NM_001351791.1:c.-66+2500G>A (CARD8) | NP_001338720.1:n.-66+2500G>A | |
| NM_001351792.1:c.-66+2500G>A (CARD8) | NP_001338721.1:n.-66+2500G>A | |
| NM_001365950.1:c.-66+2500G>A (CARD8) | NP_001352879.1:n.-66+2500G>A | |
| NM_014959.4:c.59+2500G>A (CARD8) | NP_055774.2:n.59+2500G>A | |
| NR_147707.1:n.465+2500G>A (CARD8) | ||
| XM_006723091.4:c.130G>A (CARD8) | XP_006723154.1:p.Val44Ile | |
| XM_006723092.4:c.130G>A (CARD8) | XP_006723155.1:p.Val44Ile | |
| XM_006723093.4:c.130G>A (CARD8) | XP_006723156.1:p.Val44Ile | |
| XM_006723094.4:c.130G>A (CARD8) | XP_006723157.1:p.Val44Ile | |
| XM_006723096.4:c.59+2500G>A (CARD8) | XP_006723159.1:n.59+2500G>A | |
| XM_006723097.4:c.59+2500G>A (CARD8) | XP_006723160.1:n.59+2500G>A | |
| XM_006723098.3:c.-73G>A (CARD8) | XP_006723161.1:n.-73G>A | |
| XM_006723102.4:c.-66+2500G>A (CARD8) | XP_006723165.1:n.-66+2500G>A | |
| XM_006723104.3:c.-66+2500G>A (CARD8) | XP_006723167.1:n.-66+2500G>A | |
| XM_006723106.4:c.130G>A (CARD8) | XP_006723169.1:p.Val44Ile | |
| XM_006723107.3:c.130G>A (CARD8) | XP_006723170.1:p.Val44Ile | |
| XM_006723109.3:c.-66+2500G>A (CARD8) | XP_006723172.1:n.-66+2500G>A | |
| XM_006723110.3:c.130G>A (CARD8) | XP_006723173.1:p.Val44Ile | |
| XM_011526641.3:c.130G>A (CARD8) | XP_011524943.1:p.Val44Ile | |
| XM_011526643.3:c.130G>A (CARD8) | XP_011524945.1:p.Val44Ile | |
| XM_011526644.3:c.130G>A (CARD8) | XP_011524946.1:p.Val44Ile | |
| XM_011526646.3:c.-140G>A (CARD8) | XP_011524948.1:n.-140G>A | |
| XM_011526647.3:c.-140G>A (CARD8) | XP_011524949.1:n.-140G>A | |
| XM_011526648.3:c.-140G>A (CARD8) | XP_011524950.1:n.-140G>A | |
| XM_011526650.2:c.130G>A (CARD8) | XP_011524952.1:p.Val44Ile | |
| XM_017026482.2:c.130G>A (CARD8) | XP_016881971.1:p.Val44Ile | |
| XM_017026483.2:c.59+2500G>A (CARD8) | XP_016881972.1:n.59+2500G>A | |
| XM_017026484.2:c.59+2500G>A (CARD8) | XP_016881973.1:n.59+2500G>A | |
| XM_017026485.1:c.130G>A (CARD8) | XP_016881974.1:p.Val44Ile | |
| XM_017026487.2:c.-781G>A (CARD8) | XP_016881976.1:n.-781G>A | |
| XM_017026488.2:c.-280+2500G>A (CARD8) | XP_016881977.1:n.-280+2500G>A | |
| XM_017026492.2:c.59+2500G>A (CARD8) | XP_016881981.1:n.59+2500G>A | |
| XM_017026498.1:c.-66+2500G>A (CARD8) | XP_016881987.1:n.-66+2500G>A | |
| XM_017026499.1:c.-2031+2500G>A (CARD8) | XP_016881988.1:n.-2031+2500G>A | |
| XM_024451421.1:c.-73G>A (CARD8) | XP_024307189.1:n.-73G>A | |
| XM_024451422.1:c.-73G>A (CARD8) | XP_024307190.1:n.-73G>A | |
| XM_024451423.1:c.-66+2500G>A (CARD8) | XP_024307191.1:n.-66+2500G>A | |
| XM_024451424.1:c.-2031+2500G>A (CARD8) | XP_024307192.1:n.-2031+2500G>A | |
| XM_024451425.1:c.-1688G>A (CARD8) | XP_024307193.1:n.-1688G>A | |
| XR_001753636.1:n.367G>A (CARD8) | ||
| XR_001753637.2:n.740G>A (CARD8) | ||
| XR_430193.3:n.367G>A (CARD8) | ||
| NM_001184900.3:c.130G>A (CARD8) MANE Select | NP_001171829.1:p.Val44Ile | |
| NM_001184902.2:c.130G>A (CARD8) | NP_001171831.1:p.Val44Ile | |
| NM_001351782.2:c.130G>A (CARD8) | NP_001338711.1:p.Val44Ile | |
| NM_001351783.2:c.59+2500G>A (CARD8) | NP_001338712.1:n.59+2500G>A | |
| NM_001351784.2:c.-66+2500G>A (CARD8) | NP_001338713.1:n.-66+2500G>A | |
| NM_001351786.2:c.-280+2500G>A (CARD8) | NP_001338715.1:n.-280+2500G>A | |
| NM_001351788.2:c.59+2500G>A (CARD8) | NP_001338717.1:n.59+2500G>A | |
| NM_001351789.2:c.59+2500G>A (CARD8) | NP_001338718.1:n.59+2500G>A | |
| NM_001351790.2:c.-73G>A (CARD8) | NP_001338719.1:n.-73G>A | |
| NM_001351791.2:c.-66+2500G>A (CARD8) | NP_001338720.1:n.-66+2500G>A | |
| NM_001351792.2:c.-66+2500G>A (CARD8) | NP_001338721.1:n.-66+2500G>A | |
| NM_014959.5:c.59+2500G>A (CARD8) | NP_055774.2:n.59+2500G>A | |
| NM_001184904.2:c.130G>A (CARD8) | NP_001171833.1:p.Val44Ile | |
| NM_001351787.2:c.-66+2500G>A (CARD8) | NP_001338716.1:n.-66+2500G>A |