Canonical Allele Identifier: CA118921

Gene: CACNB4

Linked Data

• ClinVar Variation Id: 7607
• ClinVar RCV Id: RCV000008045
• dbSNP Id: rs1805032
• gnomAD v2: 2-152695752-G-A
• gnomAD v4: 2-151839238-G-A
• MyVariant Identifiers: chr2:g.152695752G>A (hg19) ; chr2:g.151839238G>A (hg38)
• PubMed: PMID:10762541

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151839238G>A , CM000664.2:g.151839238G>A	GRCh38
NC_000002.11:g.152695752G>A , CM000664.1:g.152695752G>A	GRCh37
NC_000002.10:g.152403998G>A	NCBI36
NG_012641.1:g.264842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534999.7:c.1342C>T	ENSP00000443893.1:p.Arg448Ter
ENST00000201943.10:c.1258C>T	ENSP00000201943.5:p.Arg420Ter
ENST00000360283.11:c.1300C>T	ENSP00000353425.8:p.Arg434Ter
ENST00000397327.7:c.1207C>T	ENSP00000380490.3:p.Arg403Ter
ENST00000427385.6:c.1321C>T	ENSP00000410978.2:p.Arg441Ter
ENST00000439467.6:c.1303C>T	ENSP00000390161.2:p.Arg435Ter
ENST00000534999.6:c.1342C>T	ENSP00000443893.1:p.Arg448Ter
ENST00000539935.7:c.1444C>T MANE Select	ENSP00000438949.1:p.Arg482Ter
ENST00000635738.1:c.*659C>T	ENSP00000489881.1:n.*659C>T
ENST00000635803.1:n.1515C>T
ENST00000635890.1:c.433C>T
ENST00000635904.1:c.*1155C>T	ENSP00000490430.1:n.*1155C>T
ENST00000635930.1:c.*474C>T	ENSP00000489953.1:n.*474C>T
ENST00000636024.1:c.184+2430C>T
ENST00000636108.1:c.886C>T	ENSP00000490176.1:p.Arg296Ter
ENST00000636130.1:c.1117C>T	ENSP00000490607.1:p.Arg373Ter
ENST00000636350.1:c.1240C>T	ENSP00000489621.1:p.Arg414Ter
ENST00000636380.1:c.937C>T	ENSP00000490488.1:p.Arg313Ter
ENST00000636442.1:c.1267C>T	ENSP00000489779.1:p.Arg423Ter
ENST00000636507.1:c.*659C>T	ENSP00000490252.1:n.*659C>T
ENST00000636598.1:c.1303C>T	ENSP00000490247.1:p.Arg435Ter
ENST00000636617.1:c.1105C>T	ENSP00000490660.1:p.Arg369Ter
ENST00000636664.1:c.*378C>T	ENSP00000490572.1:n.*378C>T
ENST00000636721.1:c.700C>T	ENSP00000490795.1:p.Arg234Ter
ENST00000636762.1:c.*846C>T	ENSP00000490918.1:n.*846C>T
ENST00000636773.1:c.1117C>T	ENSP00000489818.1:p.Arg373Ter
ENST00000636785.1:c.973C>T	ENSP00000489788.1:p.Arg325Ter
ENST00000636810.1:n.3507C>T
ENST00000636831.1:n.3176C>T
ENST00000636901.1:c.1060C>T	ENSP00000490145.1:p.Arg354Ter
ENST00000637007.1:c.649C>T
ENST00000637132.1:c.*474C>T	ENSP00000490651.1:n.*474C>T
ENST00000637217.1:c.1303C>T	ENSP00000490250.1:p.Arg435Ter
ENST00000637224.1:c.*827+14210C>T	ENSP00000490276.1:n.*827+14210C>T
ENST00000637232.1:c.*270C>T	ENSP00000490138.1:n.*270C>T
ENST00000637284.1:c.886C>T	ENSP00000489787.1:p.Arg296Ter
ENST00000637309.1:c.*129C>T	ENSP00000490127.1:n.*129C>T
ENST00000637312.1:c.*713C>T	ENSP00000490144.1:n.*713C>T
ENST00000637319.1:n.3017C>T
ENST00000637330.1:c.*1285C>T	ENSP00000490817.1:n.*1285C>T
ENST00000637418.1:c.1219C>T	ENSP00000489679.1:p.Arg407Ter
ENST00000637436.1:c.*1262C>T	ENSP00000489746.1:n.*1262C>T
ENST00000637491.1:c.*659C>T	ENSP00000490510.1:n.*659C>T
ENST00000637514.1:c.886C>T	ENSP00000490304.1:p.Arg296Ter
ENST00000637530.1:n.2857C>T
ENST00000637535.1:c.*474C>T	ENSP00000490891.1:n.*474C>T
ENST00000637547.1:c.805C>T	ENSP00000490124.1:p.Arg269Ter
ENST00000637550.1:c.*270C>T	ENSP00000489943.1:n.*270C>T
ENST00000637559.1:c.*332+2665C>T	ENSP00000489697.1:n.*332+2665C>T
ENST00000637762.1:c.1354C>T	ENSP00000489876.1:p.Arg452Ter
ENST00000637765.1:n.2761C>T
ENST00000637779.1:c.1153C>T	ENSP00000489732.1:p.Arg385Ter
ENST00000637828.1:c.*193C>T	ENSP00000490443.1:n.*193C>T
ENST00000637913.1:n.1429C>T
ENST00000637942.1:n.1595C>T
ENST00000637956.1:c.*288C>T	ENSP00000490298.1:n.*288C>T
ENST00000638005.1:c.1390C>T	ENSP00000489677.1:p.Arg464Ter
ENST00000638040.1:c.1114C>T	ENSP00000489883.1:p.Arg372Ter
ENST00000638091.1:c.1156C>T	ENSP00000489967.1:p.Arg386Ter
ENST00000638150.1:c.*675C>T	ENSP00000490501.1:n.*675C>T
ENST00000201943.9:c.1258C>T	ENSP00000201943.5:p.Arg420Ter
ENST00000360283.10:c.*659C>T	ENSP00000353425.7:n.*659C>T
ENST00000397327.6:c.1303C>T	ENSP00000380490.2:p.Arg435Ter
ENST00000427385.5:c.1390C>T	ENSP00000410978.1:p.Arg464Ter
ENST00000439467.5:c.1429C>T	ENSP00000390161.1:p.Arg477Ter
ENST00000534999.5:c.1342C>T	ENSP00000443893.1:p.Arg448Ter
ENST00000539935.5:c.1444C>T	ENSP00000438949.1:p.Arg482Ter
NM_000726.3:c.1444C>T	NP_000717.2:p.Arg482Ter
NM_001005746.2:c.1390C>T	NP_001005746.1:p.Arg464Ter
NM_001005747.2:c.1342C>T	NP_001005747.1:p.Arg448Ter
NM_001145798.1:c.1258C>T	NP_001139270.1:p.Arg420Ter
XM_006712731.1:c.1303C>T	XP_006712794.1:p.Arg435Ter
XM_011511795.1:c.1303C>T	XP_011510097.1:p.Arg435Ter
XM_011511796.1:c.1300C>T	XP_011510098.1:p.Arg434Ter
XM_011511797.1:c.1255C>T	XP_011510099.1:p.Arg419Ter
XM_011511800.1:c.790C>T	XP_011510102.1:p.Arg264Ter
NM_000726.4:c.1444C>T	NP_000717.2:p.Arg482Ter
NM_001005746.3:c.1390C>T	NP_001005746.1:p.Arg464Ter
NM_001005747.3:c.1342C>T	NP_001005747.1:p.Arg448Ter
NM_001145798.2:c.1258C>T	NP_001139270.1:p.Arg420Ter
NM_001320722.2:c.1303C>T	NP_001307651.1:p.Arg435Ter
NM_001330113.1:c.1201C>T	NP_001317042.1:p.Arg401Ter
NM_001330114.1:c.790C>T	NP_001317043.1:p.Arg264Ter
NM_001330115.1:c.1153C>T	NP_001317044.1:p.Arg385Ter
NM_001330116.1:c.1114C>T	NP_001317045.1:p.Arg372Ter
NM_001330117.1:c.886C>T	NP_001317046.1:p.Arg296Ter
NM_001330118.1:c.1303C>T	NP_001317047.1:p.Arg435Ter
XM_011511796.2:c.1300C>T	XP_011510098.1:p.Arg434Ter
XM_011511797.3:c.1255C>T	XP_011510099.1:p.Arg419Ter
XM_017004885.1:c.790C>T	XP_016860374.1:p.Arg264Ter
XM_024453128.1:c.886C>T	XP_024308896.1:p.Arg296Ter
XR_001738928.1:n.3302C>T
XR_001738935.1:n.1412C>T
XR_001738937.2:n.1553C>T
XR_001738938.2:n.2222C>T
XR_001738939.1:n.1522C>T
XR_001738940.2:n.1663C>T
XR_002959337.1:n.1832C>T
XR_002959338.1:n.1794C>T
XR_923022.3:n.1669C>T
NM_001005746.4:c.1390C>T	NP_001005746.1:p.Arg464Ter
NM_001005747.4:c.1342C>T	NP_001005747.1:p.Arg448Ter
NM_001320722.3:c.1303C>T	NP_001307651.1:p.Arg435Ter
NM_001330113.2:c.1201C>T	NP_001317042.1:p.Arg401Ter
NM_001330114.2:c.790C>T	NP_001317043.1:p.Arg264Ter
NM_001330115.2:c.1153C>T	NP_001317044.1:p.Arg385Ter
NM_001330116.2:c.1114C>T	NP_001317045.1:p.Arg372Ter
NM_001330117.2:c.886C>T	NP_001317046.1:p.Arg296Ter
NM_000726.5:c.1444C>T MANE Select	NP_000717.2:p.Arg482Ter