Canonical Allele Identifier: CA57673020
Gene: CACNB4 HGNC NCBI

Linked Data

dbSNP Id: rs977065133
gnomAD v2: 2-152727240-C-T
gnomAD v3: 2-151870726-C-T
gnomAD v4: 2-151870726-C-T
MyVariant Identifiers: chr2:g.152727240C>T (hg19) chr2:g.151870726C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151870726C>T , CM000664.2:g.151870726C>T GRCh38
NC_000002.11:g.152727240C>T , CM000664.1:g.152727240C>T GRCh37
NC_000002.10:g.152435486C>T NCBI36
NG_012641.1:g.233354G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000534999.7:c.517-115G>A ENSP00000443893.1:n.517-115G>A
ENST00000201943.10:c.619-115G>A ENSP00000201943.5:n.619-115G>A
ENST00000360283.11:c.517-115G>A ENSP00000353425.8:n.517-115G>A
ENST00000397327.7:c.478-115G>A ENSP00000380490.3:n.478-115G>A
ENST00000427385.6:c.496-115G>A ENSP00000410978.2:n.496-115G>A
ENST00000434468.2:c.355-115G>A ENSP00000399242.2:n.355-115G>A
ENST00000439467.6:c.478-115G>A ENSP00000390161.2:n.478-115G>A
ENST00000470066.2:n.748-115G>A
ENST00000534999.6:c.517-115G>A ENSP00000443893.1:n.517-115G>A
ENST00000539935.7:c.619-115G>A MANE Select ENSP00000438949.1:n.619-115G>A
ENST00000635738.1:c.516+116G>A ENSP00000489881.1:n.516+116G>A
ENST00000635803.1:n.859-115G>A
ENST00000635904.1:c.478-115G>A ENSP00000490430.1:n.478-115G>A
ENST00000635930.1:c.61-115G>A ENSP00000489953.1:n.61-115G>A
ENST00000636108.1:c.478-115G>A ENSP00000490176.1:n.478-115G>A
ENST00000636129.1:c.565-115G>A ENSP00000489912.1:n.565-115G>A
ENST00000636130.1:c.478-115G>A ENSP00000490607.1:n.478-115G>A
ENST00000636350.1:c.394-115G>A ENSP00000489621.1:n.394-115G>A
ENST00000636380.1:c.457+1691G>A ENSP00000490488.1:n.457+1691G>A
ENST00000636390.1:c.147-115G>A
ENST00000636442.1:c.442-115G>A ENSP00000489779.1:n.442-115G>A
ENST00000636507.1:c.478-115G>A ENSP00000490252.1:n.478-115G>A
ENST00000636598.1:c.478-115G>A ENSP00000490247.1:n.478-115G>A
ENST00000636617.1:c.419+5700G>A ENSP00000490660.1:n.419+5700G>A
ENST00000636664.1:c.517-115G>A ENSP00000490572.1:n.517-115G>A
ENST00000636721.1:c.478-115G>A ENSP00000490795.1:n.478-115G>A
ENST00000636762.1:c.*21-115G>A ENSP00000490918.1:n.*21-115G>A
ENST00000636773.1:c.478-115G>A ENSP00000489818.1:n.478-115G>A
ENST00000636785.1:c.565-115G>A ENSP00000489788.1:n.565-115G>A
ENST00000636810.1:n.2567G>A
ENST00000636831.1:n.2405G>A
ENST00000636834.1:n.2406G>A
ENST00000636901.1:c.517-115G>A ENSP00000490145.1:n.517-115G>A
ENST00000636947.1:c.517-115G>A ENSP00000490337.1:n.517-115G>A
ENST00000637007.1:c.241-115G>A
ENST00000637132.1:c.478-115G>A ENSP00000490651.1:n.478-115G>A
ENST00000637216.1:c.517-115G>A ENSP00000490910.1:n.517-115G>A
ENST00000637217.1:c.478-115G>A ENSP00000490250.1:n.478-115G>A
ENST00000637224.1:c.478-115G>A ENSP00000490276.1:n.478-115G>A
ENST00000637232.1:c.380+5700G>A ENSP00000490138.1:n.380+5700G>A
ENST00000637284.1:c.61-115G>A ENSP00000489787.1:n.61-115G>A
ENST00000637309.1:c.619-115G>A ENSP00000490127.1:n.619-115G>A
ENST00000637312.1:c.497-115G>A ENSP00000490144.1:n.497-115G>A
ENST00000637319.1:n.897-115G>A
ENST00000637330.1:c.*556-115G>A ENSP00000490817.1:n.*556-115G>A
ENST00000637418.1:c.394-115G>A ENSP00000489679.1:n.394-115G>A
ENST00000637436.1:c.*437-115G>A ENSP00000489746.1:n.*437-115G>A
ENST00000637491.1:c.517-115G>A ENSP00000490510.1:n.517-115G>A
ENST00000637514.1:c.61-115G>A ENSP00000490304.1:n.61-115G>A
ENST00000637530.1:n.737-115G>A
ENST00000637535.1:c.517-115G>A ENSP00000490891.1:n.517-115G>A
ENST00000637547.1:c.477+116G>A ENSP00000490124.1:n.477+116G>A
ENST00000637550.1:c.419+5700G>A ENSP00000489943.1:n.419+5700G>A
ENST00000637559.1:c.517-115G>A ENSP00000489697.1:n.517-115G>A
ENST00000637622.1:n.897-115G>A
ENST00000637762.1:c.529-115G>A ENSP00000489876.1:n.529-115G>A
ENST00000637765.1:n.737-115G>A
ENST00000637773.1:n.2407G>A
ENST00000637779.1:c.497-115G>A ENSP00000489732.1:n.497-115G>A
ENST00000637828.1:c.478-115G>A ENSP00000490443.1:n.478-115G>A
ENST00000637884.1:n.3410G>A
ENST00000637913.1:n.604-115G>A
ENST00000637956.1:c.61-115G>A ENSP00000490298.1:n.61-115G>A
ENST00000638005.1:c.565-115G>A ENSP00000489677.1:n.565-115G>A
ENST00000638040.1:c.458-115G>A ENSP00000489883.1:n.458-115G>A
ENST00000638056.1:c.232-115G>A
ENST00000638091.1:c.517-115G>A ENSP00000489967.1:n.517-115G>A
ENST00000638150.1:c.496+1691G>A ENSP00000490501.1:n.496+1691G>A
ENST00000201943.9:c.619-115G>A ENSP00000201943.5:n.619-115G>A
ENST00000360283.10:c.517-115G>A ENSP00000353425.7:n.517-115G>A
ENST00000397327.6:c.478-115G>A ENSP00000380490.2:n.478-115G>A
ENST00000427385.5:c.565-115G>A ENSP00000410978.1:n.565-115G>A
ENST00000439467.5:c.604-115G>A ENSP00000390161.1:n.604-115G>A
ENST00000470066.1:n.524-115G>A
ENST00000534999.5:c.517-115G>A ENSP00000443893.1:n.517-115G>A
ENST00000539935.5:c.619-115G>A ENSP00000438949.1:n.619-115G>A
NM_000726.3:c.619-115G>A NP_000717.2:n.619-115G>A
NM_001005746.2:c.565-115G>A NP_001005746.1:n.565-115G>A
NM_001005747.2:c.517-115G>A NP_001005747.1:n.517-115G>A
NM_001145798.1:c.619-115G>A NP_001139270.1:n.619-115G>A
XM_005246838.2:c.517-115G>A XP_005246895.1:n.517-115G>A
XM_006712731.1:c.478-115G>A XP_006712794.1:n.478-115G>A
XM_011511795.1:c.478-115G>A XP_011510097.1:n.478-115G>A
XM_011511796.1:c.475-115G>A XP_011510098.1:n.475-115G>A
XM_011511797.1:c.599-115G>A XP_011510099.1:n.599-115G>A
XM_011511798.1:c.619-115G>A XP_011510100.1:n.619-115G>A
XM_011511799.1:c.619-115G>A XP_011510101.1:n.619-115G>A
XM_011511800.1:c.-36-115G>A XP_011510102.1:n.-36-115G>A
XR_923022.1:n.1596-115G>A
XR_923023.1:n.1596-115G>A
NM_000726.4:c.619-115G>A NP_000717.2:n.619-115G>A
NM_001005746.3:c.565-115G>A NP_001005746.1:n.565-115G>A
NM_001005747.3:c.517-115G>A NP_001005747.1:n.517-115G>A
NM_001145798.2:c.619-115G>A NP_001139270.1:n.619-115G>A
NM_001320722.2:c.478-115G>A NP_001307651.1:n.478-115G>A
NM_001330113.1:c.545-115G>A NP_001317042.1:n.545-115G>A
NM_001330114.1:c.-36-115G>A NP_001317043.1:n.-36-115G>A
NM_001330115.1:c.497-115G>A NP_001317044.1:n.497-115G>A
NM_001330116.1:c.458-115G>A NP_001317045.1:n.458-115G>A
NM_001330117.1:c.61-115G>A NP_001317046.1:n.61-115G>A
NM_001330118.1:c.478-115G>A NP_001317047.1:n.478-115G>A
XM_011511796.2:c.475-115G>A XP_011510098.1:n.475-115G>A
XM_011511797.3:c.599-115G>A XP_011510099.1:n.599-115G>A
XM_017004885.1:c.-36-115G>A XP_016860374.1:n.-36-115G>A
XM_017004888.2:c.545-115G>A XP_016860377.1:n.545-115G>A
XM_024453128.1:c.61-115G>A XP_024308896.1:n.61-115G>A
XR_001738928.1:n.2405-115G>A
XR_001738935.1:n.756-115G>A
XR_001738937.2:n.897-115G>A
XR_001738938.2:n.897-115G>A
XR_001738939.1:n.756-115G>A
XR_001738940.2:n.897-115G>A
XR_002959337.1:n.772-115G>A
XR_002959338.1:n.897-115G>A
XR_923022.3:n.772-115G>A
NM_001005746.4:c.565-115G>A NP_001005746.1:n.565-115G>A
NM_001005747.4:c.517-115G>A NP_001005747.1:n.517-115G>A
NM_001320722.3:c.478-115G>A NP_001307651.1:n.478-115G>A
NM_001330113.2:c.545-115G>A NP_001317042.1:n.545-115G>A
NM_001330114.2:c.-36-115G>A NP_001317043.1:n.-36-115G>A
NM_001330115.2:c.497-115G>A NP_001317044.1:n.497-115G>A
NM_001330116.2:c.458-115G>A NP_001317045.1:n.458-115G>A
NM_001330117.2:c.61-115G>A NP_001317046.1:n.61-115G>A
NM_000726.5:c.619-115G>A MANE Select NP_000717.2:n.619-115G>A
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