Canonical Allele Identifier: CA1912359

Gene: CACNB4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151839372C>T , CM000664.2:g.151839372C>T	GRCh38
NC_000002.11:g.152695886C>T , CM000664.1:g.152695886C>T	GRCh37
NC_000002.10:g.152404132C>T	NCBI36
NG_012641.1:g.264708G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000726.5:c.1310G>A MANE Select	NP_000717.2:p.Arg437Gln
ENST00000539935.7:c.1310G>A MANE Select	ENSP00000438949.1:p.Arg437Gln
NM_000726.3:c.1310G>A	NP_000717.2:p.Arg437Gln
NM_000726.4:c.1310G>A	NP_000717.2:p.Arg437Gln
NM_001005746.2:c.1256G>A	NP_001005746.1:p.Arg419Gln
NM_001005746.3:c.1256G>A	NP_001005746.1:p.Arg419Gln
NM_001005746.4:c.1256G>A	NP_001005746.1:p.Arg419Gln
NM_001005747.2:c.1208G>A	NP_001005747.1:p.Arg403Gln
NM_001005747.3:c.1208G>A	NP_001005747.1:p.Arg403Gln
NM_001005747.4:c.1208G>A	NP_001005747.1:p.Arg403Gln
NM_001145798.1:c.1124G>A	NP_001139270.1:p.Arg375Gln
NM_001145798.2:c.1124G>A	NP_001139270.1:p.Arg375Gln
NM_001320722.2:c.1169G>A	NP_001307651.1:p.Arg390Gln
NM_001320722.3:c.1169G>A	NP_001307651.1:p.Arg390Gln
NM_001330113.1:c.1067G>A	NP_001317042.1:p.Arg356Gln
NM_001330113.2:c.1067G>A	NP_001317042.1:p.Arg356Gln
NM_001330114.1:c.656G>A	NP_001317043.1:p.Arg219Gln
NM_001330114.2:c.656G>A	NP_001317043.1:p.Arg219Gln
NM_001330115.1:c.1019G>A	NP_001317044.1:p.Arg340Gln
NM_001330115.2:c.1019G>A	NP_001317044.1:p.Arg340Gln
NM_001330116.1:c.980G>A	NP_001317045.1:p.Arg327Gln
NM_001330116.2:c.980G>A	NP_001317045.1:p.Arg327Gln
NM_001330117.1:c.752G>A	NP_001317046.1:p.Arg251Gln
NM_001330117.2:c.752G>A	NP_001317046.1:p.Arg251Gln
NM_001330118.1:c.1169G>A	NP_001317047.1:p.Arg390Gln
ENST00000201943.10:c.1124G>A	ENSP00000201943.5:p.Arg375Gln
ENST00000201943.9:c.1124G>A	ENSP00000201943.5:p.Arg375Gln
ENST00000360283.10:c.*525G>A	ENSP00000353425.7:n.*525G>A
ENST00000360283.11:c.1166G>A	ENSP00000353425.8:p.Arg389Gln
ENST00000397327.6:c.1169G>A	ENSP00000380490.2:p.Arg390Gln
ENST00000397327.7:c.1073G>A	ENSP00000380490.3:p.Arg358Gln
ENST00000427385.5:c.1256G>A	ENSP00000410978.1:p.Arg419Gln
ENST00000427385.6:c.1187G>A	ENSP00000410978.2:p.Arg396Gln
ENST00000439467.5:c.1295G>A	ENSP00000390161.1:p.Arg432Gln
ENST00000439467.6:c.1169G>A	ENSP00000390161.2:p.Arg390Gln
ENST00000534999.5:c.1208G>A	ENSP00000443893.1:p.Arg403Gln
ENST00000534999.6:c.1208G>A	ENSP00000443893.1:p.Arg403Gln
ENST00000534999.7:c.1208G>A	ENSP00000443893.1:p.Arg403Gln
ENST00000539935.5:c.1310G>A	ENSP00000438949.1:p.Arg437Gln
ENST00000635738.1:c.*525G>A	ENSP00000489881.1:n.*525G>A
ENST00000635803.1:n.1381G>A
ENST00000635890.1:c.299G>A
ENST00000635904.1:c.*1021G>A	ENSP00000490430.1:n.*1021G>A
ENST00000635930.1:c.*340G>A	ENSP00000489953.1:n.*340G>A
ENST00000636024.1:c.184+2296G>A
ENST00000636108.1:c.752G>A	ENSP00000490176.1:p.Arg251Gln
ENST00000636130.1:c.983G>A	ENSP00000490607.1:p.Arg328Gln
ENST00000636350.1:c.1106G>A	ENSP00000489621.1:p.Arg369Gln
ENST00000636380.1:c.803G>A	ENSP00000490488.1:p.Arg268Gln
ENST00000636442.1:c.1133G>A	ENSP00000489779.1:p.Arg378Gln
ENST00000636507.1:c.*525G>A	ENSP00000490252.1:n.*525G>A
ENST00000636598.1:c.1169G>A	ENSP00000490247.1:p.Arg390Gln
ENST00000636617.1:c.971G>A	ENSP00000490660.1:p.Arg324Gln
ENST00000636664.1:c.*244G>A	ENSP00000490572.1:n.*244G>A
ENST00000636721.1:c.566G>A	ENSP00000490795.1:p.Arg189Gln
ENST00000636762.1:c.*712G>A	ENSP00000490918.1:n.*712G>A
ENST00000636773.1:c.983G>A	ENSP00000489818.1:p.Arg328Gln
ENST00000636785.1:c.839G>A	ENSP00000489788.1:p.Arg280Gln
ENST00000636810.1:n.3373G>A
ENST00000636831.1:n.3042G>A
ENST00000636901.1:c.926G>A	ENSP00000490145.1:p.Arg309Gln
ENST00000637007.1:c.515G>A
ENST00000637132.1:c.*340G>A	ENSP00000490651.1:n.*340G>A
ENST00000637217.1:c.1169G>A	ENSP00000490250.1:p.Arg390Gln
ENST00000637224.1:c.*827+14076G>A	ENSP00000490276.1:n.*827+14076G>A
ENST00000637232.1:c.*136G>A	ENSP00000490138.1:n.*136G>A
ENST00000637284.1:c.752G>A	ENSP00000489787.1:p.Arg251Gln
ENST00000637309.1:c.766G>A	ENSP00000490127.1:p.Glu256Lys
ENST00000637312.1:c.*579G>A	ENSP00000490144.1:n.*579G>A
ENST00000637319.1:n.2883G>A
ENST00000637330.1:c.*1151G>A	ENSP00000490817.1:n.*1151G>A
ENST00000637418.1:c.1085G>A	ENSP00000489679.1:p.Arg362Gln
ENST00000637436.1:c.*1128G>A	ENSP00000489746.1:n.*1128G>A
ENST00000637491.1:c.*525G>A	ENSP00000490510.1:n.*525G>A
ENST00000637514.1:c.752G>A	ENSP00000490304.1:p.Arg251Gln
ENST00000637530.1:n.2723G>A
ENST00000637535.1:c.*340G>A	ENSP00000490891.1:n.*340G>A
ENST00000637547.1:c.671G>A	ENSP00000490124.1:p.Arg224Gln
ENST00000637550.1:c.*136G>A	ENSP00000489943.1:n.*136G>A
ENST00000637559.1:c.*332+2531G>A	ENSP00000489697.1:n.*332+2531G>A
ENST00000637762.1:c.1220G>A	ENSP00000489876.1:p.Arg407Gln
ENST00000637765.1:n.2627G>A
ENST00000637779.1:c.1019G>A	ENSP00000489732.1:p.Arg340Gln
ENST00000637828.1:c.*59G>A	ENSP00000490443.1:n.*59G>A
ENST00000637913.1:n.1295G>A
ENST00000637942.1:n.1461G>A
ENST00000637956.1:c.*154G>A	ENSP00000490298.1:n.*154G>A
ENST00000638005.1:c.1256G>A	ENSP00000489677.1:p.Arg419Gln
ENST00000638040.1:c.980G>A	ENSP00000489883.1:p.Arg327Gln
ENST00000638091.1:c.1022G>A	ENSP00000489967.1:p.Arg341Gln
ENST00000638150.1:c.*541G>A	ENSP00000490501.1:n.*541G>A
XM_006712731.1:c.1169G>A	XP_006712794.1:p.Arg390Gln
XM_011511795.1:c.1169G>A	XP_011510097.1:p.Arg390Gln
XM_011511796.1:c.1166G>A	XP_011510098.1:p.Arg389Gln
XM_011511796.2:c.1166G>A	XP_011510098.1:p.Arg389Gln
XM_011511797.1:c.1121G>A	XP_011510099.1:p.Arg374Gln
XM_011511797.3:c.1121G>A	XP_011510099.1:p.Arg374Gln
XM_011511800.1:c.656G>A	XP_011510102.1:p.Arg219Gln
XM_017004885.1:c.656G>A	XP_016860374.1:p.Arg219Gln
XM_024453128.1:c.752G>A	XP_024308896.1:p.Arg251Gln
XR_001738928.1:n.3168G>A
XR_001738935.1:n.1278G>A
XR_001738937.2:n.1419G>A
XR_001738938.2:n.2088G>A
XR_001738939.1:n.1388G>A
XR_001738940.2:n.1529G>A
XR_002959337.1:n.1698G>A
XR_002959338.1:n.1660G>A
XR_923022.1:n.2359G>A
XR_923022.3:n.1535G>A