Canonical Allele Identifier: CA429241406

Gene: CACNB4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151876548G>A , CM000664.2:g.151876548G>A	GRCh38
NC_000002.11:g.152733062G>A , CM000664.1:g.152733062G>A	GRCh37
NC_000002.10:g.152441308G>A	NCBI36
NG_012641.1:g.227532C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000726.5:c.399C>T MANE Select	NP_000717.2:p.Asn133=
ENST00000539935.7:c.399C>T MANE Select	ENSP00000438949.1:p.Asn133=
NM_000726.3:c.399C>T	NP_000717.2:p.Asn133=
NM_000726.4:c.399C>T	NP_000717.2:p.Asn133=
NM_001005746.2:c.345C>T	NP_001005746.1:p.Asn115=
NM_001005746.3:c.345C>T	NP_001005746.1:p.Asn115=
NM_001005746.4:c.345C>T	NP_001005746.1:p.Asn115=
NM_001005747.2:c.297C>T	NP_001005747.1:p.Asn99=
NM_001005747.3:c.297C>T	NP_001005747.1:p.Asn99=
NM_001005747.4:c.297C>T	NP_001005747.1:p.Asn99=
NM_001145798.1:c.399C>T	NP_001139270.1:p.Asn133=
NM_001145798.2:c.399C>T	NP_001139270.1:p.Asn133=
NM_001320722.2:c.258C>T	NP_001307651.1:p.Asn86=
NM_001320722.3:c.258C>T	NP_001307651.1:p.Asn86=
NM_001330113.1:c.345C>T	NP_001317042.1:p.Asn115=
NM_001330113.2:c.345C>T	NP_001317042.1:p.Asn115=
NM_001330114.1:c.-236C>T	NP_001317043.1:n.-236C>T
NM_001330114.2:c.-236C>T	NP_001317043.1:n.-236C>T
NM_001330115.1:c.297C>T	NP_001317044.1:p.Asn99=
NM_001330115.2:c.297C>T	NP_001317044.1:p.Asn99=
NM_001330116.1:c.258C>T	NP_001317045.1:p.Asn86=
NM_001330116.2:c.258C>T	NP_001317045.1:p.Asn86=
NM_001330117.1:c.-160C>T	NP_001317046.1:n.-160C>T
NM_001330117.2:c.-160C>T	NP_001317046.1:n.-160C>T
NM_001330118.1:c.258C>T	NP_001317047.1:p.Asn86=
ENST00000201943.10:c.399C>T	ENSP00000201943.5:p.Asn133=
ENST00000201943.9:c.399C>T	ENSP00000201943.5:p.Asn133=
ENST00000360283.10:c.297C>T	ENSP00000353425.7:p.Asn99=
ENST00000360283.11:c.297C>T	ENSP00000353425.8:p.Asn99=
ENST00000397327.6:c.258C>T	ENSP00000380490.2:p.Asn86=
ENST00000397327.7:c.258C>T	ENSP00000380490.3:p.Asn86=
ENST00000427385.5:c.345C>T	ENSP00000410978.1:p.Asn115=
ENST00000427385.6:c.276C>T	ENSP00000410978.2:p.Asn92=
ENST00000434468.1:c.258C>T	ENSP00000399242.1:p.Asn86=
ENST00000434468.2:c.135C>T	ENSP00000399242.2:p.Asn45=
ENST00000439467.5:c.384C>T	ENSP00000390161.1:p.Asn128=
ENST00000439467.6:c.258C>T	ENSP00000390161.2:p.Asn86=
ENST00000470066.1:n.304C>T
ENST00000470066.2:n.528C>T
ENST00000534999.5:c.297C>T	ENSP00000443893.1:p.Asn99=
ENST00000534999.6:c.297C>T	ENSP00000443893.1:p.Asn99=
ENST00000534999.7:c.297C>T	ENSP00000443893.1:p.Asn99=
ENST00000539935.5:c.399C>T	ENSP00000438949.1:p.Asn133=
ENST00000635738.1:c.297C>T	ENSP00000489881.1:p.Asn99=
ENST00000635743.1:n.526C>T
ENST00000635803.1:n.639C>T
ENST00000635904.1:c.258C>T	ENSP00000490430.1:p.Asn86=
ENST00000635930.1:c.-160C>T	ENSP00000489953.1:n.-160C>T
ENST00000636108.1:c.258C>T	ENSP00000490176.1:p.Asn86=
ENST00000636129.1:c.345C>T	ENSP00000489912.1:p.Asn115=
ENST00000636130.1:c.258C>T	ENSP00000490607.1:p.Asn86=
ENST00000636350.1:c.174C>T	ENSP00000489621.1:p.Asn58=
ENST00000636380.1:c.258C>T	ENSP00000490488.1:p.Asn86=
ENST00000636442.1:c.222C>T	ENSP00000489779.1:p.Asn74=
ENST00000636507.1:c.258C>T	ENSP00000490252.1:p.Asn86=
ENST00000636598.1:c.258C>T	ENSP00000490247.1:p.Asn86=
ENST00000636617.1:c.297C>T	ENSP00000490660.1:p.Asn99=
ENST00000636664.1:c.297C>T	ENSP00000490572.1:p.Asn99=
ENST00000636721.1:c.258C>T	ENSP00000490795.1:p.Asn86=
ENST00000636762.1:c.345C>T	ENSP00000490918.1:p.Asn115=
ENST00000636773.1:c.258C>T	ENSP00000489818.1:p.Asn86=
ENST00000636785.1:c.345C>T	ENSP00000489788.1:p.Asn115=
ENST00000636810.1:n.677C>T
ENST00000636831.1:n.515C>T
ENST00000636834.1:n.516C>T
ENST00000636901.1:c.297C>T	ENSP00000490145.1:p.Asn99=
ENST00000636947.1:c.297C>T	ENSP00000490337.1:p.Asn99=
ENST00000637007.1:c.41C>T
ENST00000637132.1:c.258C>T	ENSP00000490651.1:p.Asn86=
ENST00000637216.1:c.297C>T	ENSP00000490910.1:p.Asn99=
ENST00000637217.1:c.258C>T	ENSP00000490250.1:p.Asn86=
ENST00000637224.1:c.258C>T	ENSP00000490276.1:p.Asn86=
ENST00000637232.1:c.258C>T	ENSP00000490138.1:p.Asn86=
ENST00000637284.1:c.-160C>T	ENSP00000489787.1:n.-160C>T
ENST00000637309.1:c.399C>T	ENSP00000490127.1:p.Asn133=
ENST00000637312.1:c.297C>T	ENSP00000490144.1:p.Asn99=
ENST00000637319.1:n.677C>T
ENST00000637330.1:c.*336C>T	ENSP00000490817.1:n.*336C>T
ENST00000637418.1:c.174C>T	ENSP00000489679.1:p.Asn58=
ENST00000637436.1:c.*217C>T	ENSP00000489746.1:n.*217C>T
ENST00000637491.1:c.297C>T	ENSP00000490510.1:p.Asn99=
ENST00000637514.1:c.-160C>T	ENSP00000490304.1:n.-160C>T
ENST00000637530.1:n.517C>T
ENST00000637535.1:c.297C>T	ENSP00000490891.1:p.Asn99=
ENST00000637547.1:c.258C>T	ENSP00000490124.1:p.Asn86=
ENST00000637550.1:c.297C>T	ENSP00000489943.1:p.Asn99=
ENST00000637559.1:c.297C>T	ENSP00000489697.1:p.Asn99=
ENST00000637622.1:n.677C>T
ENST00000637762.1:c.258C>T	ENSP00000489876.1:p.Asn86=
ENST00000637765.1:n.517C>T
ENST00000637773.1:n.517C>T
ENST00000637779.1:c.297C>T	ENSP00000489732.1:p.Asn99=
ENST00000637828.1:c.258C>T	ENSP00000490443.1:p.Asn86=
ENST00000637913.1:n.384C>T
ENST00000637956.1:c.-160C>T	ENSP00000490298.1:n.-160C>T
ENST00000638005.1:c.345C>T	ENSP00000489677.1:p.Asn115=
ENST00000638040.1:c.258C>T	ENSP00000489883.1:p.Asn86=
ENST00000638056.1:c.32C>T
ENST00000638091.1:c.297C>T	ENSP00000489967.1:p.Asn99=
ENST00000638150.1:c.297C>T	ENSP00000490501.1:p.Asn99=
XM_005246838.2:c.297C>T	XP_005246895.1:p.Asn99=
XM_006712731.1:c.258C>T	XP_006712794.1:p.Asn86=
XM_011511795.1:c.258C>T	XP_011510097.1:p.Asn86=
XM_011511796.1:c.255C>T	XP_011510098.1:p.Asn85=
XM_011511796.2:c.255C>T	XP_011510098.1:p.Asn85=
XM_011511797.1:c.399C>T	XP_011510099.1:p.Asn133=
XM_011511797.3:c.399C>T	XP_011510099.1:p.Asn133=
XM_011511798.1:c.399C>T	XP_011510100.1:p.Asn133=
XM_011511799.1:c.399C>T	XP_011510101.1:p.Asn133=
XM_017004885.1:c.-236C>T	XP_016860374.1:n.-236C>T
XM_017004888.2:c.345C>T	XP_016860377.1:p.Asn115=
XM_024453128.1:c.-160C>T	XP_024308896.1:n.-160C>T
XR_001738928.1:n.2185C>T
XR_001738935.1:n.536C>T
XR_001738937.2:n.677C>T
XR_001738938.2:n.677C>T
XR_001738939.1:n.536C>T
XR_001738940.2:n.677C>T
XR_002959337.1:n.552C>T
XR_002959338.1:n.677C>T
XR_923022.1:n.1376C>T
XR_923022.3:n.552C>T
XR_923023.1:n.1376C>T