Canonical Allele Identifier: CA348799685

Gene: CACNB4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151872486T>C , CM000664.2:g.151872486T>C	GRCh38
NC_000002.11:g.152729000T>C , CM000664.1:g.152729000T>C	GRCh37
NC_000002.10:g.152437246T>C	NCBI36
NG_012641.1:g.231594A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000726.5:c.529A>G MANE Select	NP_000717.2:p.Ser177Gly
ENST00000539935.7:c.529A>G MANE Select	ENSP00000438949.1:p.Ser177Gly
NM_000726.3:c.529A>G	NP_000717.2:p.Ser177Gly
NM_000726.4:c.529A>G	NP_000717.2:p.Ser177Gly
NM_001005746.2:c.475A>G	NP_001005746.1:p.Ser159Gly
NM_001005746.3:c.475A>G	NP_001005746.1:p.Ser159Gly
NM_001005746.4:c.475A>G	NP_001005746.1:p.Ser159Gly
NM_001005747.2:c.427A>G	NP_001005747.1:p.Ser143Gly
NM_001005747.3:c.427A>G	NP_001005747.1:p.Ser143Gly
NM_001005747.4:c.427A>G	NP_001005747.1:p.Ser143Gly
NM_001145798.1:c.529A>G	NP_001139270.1:p.Ser177Gly
NM_001145798.2:c.529A>G	NP_001139270.1:p.Ser177Gly
NM_001320722.2:c.388A>G	NP_001307651.1:p.Ser130Gly
NM_001320722.3:c.388A>G	NP_001307651.1:p.Ser130Gly
NM_001330113.1:c.475A>G	NP_001317042.1:p.Ser159Gly
NM_001330113.2:c.475A>G	NP_001317042.1:p.Ser159Gly
NM_001330114.1:c.-106A>G	NP_001317043.1:n.-106A>G
NM_001330114.2:c.-106A>G	NP_001317043.1:n.-106A>G
NM_001330115.1:c.427A>G	NP_001317044.1:p.Ser143Gly
NM_001330115.2:c.427A>G	NP_001317044.1:p.Ser143Gly
NM_001330116.1:c.388A>G	NP_001317045.1:p.Ser130Gly
NM_001330116.2:c.388A>G	NP_001317045.1:p.Ser130Gly
NM_001330117.1:c.-30A>G	NP_001317046.1:n.-30A>G
NM_001330117.2:c.-30A>G	NP_001317046.1:n.-30A>G
NM_001330118.1:c.388A>G	NP_001317047.1:p.Ser130Gly
ENST00000201943.10:c.529A>G	ENSP00000201943.5:p.Ser177Gly
ENST00000201943.9:c.529A>G	ENSP00000201943.5:p.Ser177Gly
ENST00000360283.10:c.427A>G	ENSP00000353425.7:p.Ser143Gly
ENST00000360283.11:c.427A>G	ENSP00000353425.8:p.Ser143Gly
ENST00000397327.6:c.388A>G	ENSP00000380490.2:p.Ser130Gly
ENST00000397327.7:c.388A>G	ENSP00000380490.3:p.Ser130Gly
ENST00000427385.5:c.475A>G	ENSP00000410978.1:p.Ser159Gly
ENST00000427385.6:c.406A>G	ENSP00000410978.2:p.Ser136Gly
ENST00000434468.2:c.265A>G	ENSP00000399242.2:p.Ser89Gly
ENST00000439467.5:c.514A>G	ENSP00000390161.1:p.Ser172Gly
ENST00000439467.6:c.388A>G	ENSP00000390161.2:p.Ser130Gly
ENST00000470066.1:n.434A>G
ENST00000470066.2:n.658A>G
ENST00000534999.5:c.427A>G	ENSP00000443893.1:p.Ser143Gly
ENST00000534999.6:c.427A>G	ENSP00000443893.1:p.Ser143Gly
ENST00000534999.7:c.427A>G	ENSP00000443893.1:p.Ser143Gly
ENST00000539935.5:c.529A>G	ENSP00000438949.1:p.Ser177Gly
ENST00000635738.1:c.427A>G	ENSP00000489881.1:p.Ser143Gly
ENST00000635743.1:n.656A>G
ENST00000635803.1:n.769A>G
ENST00000635904.1:c.388A>G	ENSP00000490430.1:p.Ser130Gly
ENST00000635930.1:c.-30A>G	ENSP00000489953.1:n.-30A>G
ENST00000636108.1:c.388A>G	ENSP00000490176.1:p.Ser130Gly
ENST00000636129.1:c.475A>G	ENSP00000489912.1:p.Ser159Gly
ENST00000636130.1:c.388A>G	ENSP00000490607.1:p.Ser130Gly
ENST00000636350.1:c.304A>G	ENSP00000489621.1:p.Ser102Gly
ENST00000636380.1:c.388A>G	ENSP00000490488.1:p.Ser130Gly
ENST00000636390.1:c.77A>G
ENST00000636442.1:c.352A>G	ENSP00000489779.1:p.Ser118Gly
ENST00000636507.1:c.388A>G	ENSP00000490252.1:p.Ser130Gly
ENST00000636598.1:c.388A>G	ENSP00000490247.1:p.Ser130Gly
ENST00000636617.1:c.419+3940A>G	ENSP00000490660.1:n.419+3940A>G
ENST00000636664.1:c.427A>G	ENSP00000490572.1:p.Ser143Gly
ENST00000636721.1:c.388A>G	ENSP00000490795.1:p.Ser130Gly
ENST00000636762.1:c.475A>G	ENSP00000490918.1:p.Ser159Gly
ENST00000636773.1:c.388A>G	ENSP00000489818.1:p.Ser130Gly
ENST00000636785.1:c.475A>G	ENSP00000489788.1:p.Ser159Gly
ENST00000636810.1:n.807A>G
ENST00000636831.1:n.645A>G
ENST00000636834.1:n.646A>G
ENST00000636901.1:c.427A>G	ENSP00000490145.1:p.Ser143Gly
ENST00000636947.1:c.427A>G	ENSP00000490337.1:p.Ser143Gly
ENST00000637007.1:c.171A>G
ENST00000637132.1:c.388A>G	ENSP00000490651.1:p.Ser130Gly
ENST00000637216.1:c.427A>G	ENSP00000490910.1:p.Ser143Gly
ENST00000637217.1:c.388A>G	ENSP00000490250.1:p.Ser130Gly
ENST00000637224.1:c.388A>G	ENSP00000490276.1:p.Ser130Gly
ENST00000637232.1:c.380+3940A>G	ENSP00000490138.1:n.380+3940A>G
ENST00000637284.1:c.-30A>G	ENSP00000489787.1:n.-30A>G
ENST00000637309.1:c.529A>G	ENSP00000490127.1:p.Ser177Gly
ENST00000637312.1:c.427A>G	ENSP00000490144.1:p.Ser143Gly
ENST00000637319.1:n.807A>G
ENST00000637330.1:c.*466A>G	ENSP00000490817.1:n.*466A>G
ENST00000637418.1:c.304A>G	ENSP00000489679.1:p.Ser102Gly
ENST00000637436.1:c.*347A>G	ENSP00000489746.1:n.*347A>G
ENST00000637491.1:c.427A>G	ENSP00000490510.1:p.Ser143Gly
ENST00000637514.1:c.-30A>G	ENSP00000490304.1:n.-30A>G
ENST00000637530.1:n.647A>G
ENST00000637535.1:c.427A>G	ENSP00000490891.1:p.Ser143Gly
ENST00000637547.1:c.388A>G	ENSP00000490124.1:p.Ser130Gly
ENST00000637550.1:c.419+3940A>G	ENSP00000489943.1:n.419+3940A>G
ENST00000637559.1:c.427A>G	ENSP00000489697.1:p.Ser143Gly
ENST00000637622.1:n.807A>G
ENST00000637762.1:c.439A>G	ENSP00000489876.1:p.Ser147Gly
ENST00000637765.1:n.647A>G
ENST00000637773.1:n.647A>G
ENST00000637779.1:c.427A>G	ENSP00000489732.1:p.Ser143Gly
ENST00000637828.1:c.388A>G	ENSP00000490443.1:p.Ser130Gly
ENST00000637884.1:n.1650A>G
ENST00000637913.1:n.514A>G
ENST00000637956.1:c.-30A>G	ENSP00000490298.1:n.-30A>G
ENST00000638005.1:c.475A>G	ENSP00000489677.1:p.Ser159Gly
ENST00000638040.1:c.388A>G	ENSP00000489883.1:p.Ser130Gly
ENST00000638056.1:c.162A>G
ENST00000638091.1:c.427A>G	ENSP00000489967.1:p.Ser143Gly
ENST00000638150.1:c.427A>G	ENSP00000490501.1:p.Ser143Gly
XM_005246838.2:c.427A>G	XP_005246895.1:p.Ser143Gly
XM_006712731.1:c.388A>G	XP_006712794.1:p.Ser130Gly
XM_011511795.1:c.388A>G	XP_011510097.1:p.Ser130Gly
XM_011511796.1:c.385A>G	XP_011510098.1:p.Ser129Gly
XM_011511796.2:c.385A>G	XP_011510098.1:p.Ser129Gly
XM_011511797.1:c.529A>G	XP_011510099.1:p.Ser177Gly
XM_011511797.3:c.529A>G	XP_011510099.1:p.Ser177Gly
XM_011511798.1:c.529A>G	XP_011510100.1:p.Ser177Gly
XM_011511799.1:c.529A>G	XP_011510101.1:p.Ser177Gly
XM_011511800.1:c.-106A>G	XP_011510102.1:n.-106A>G
XM_017004885.1:c.-106A>G	XP_016860374.1:n.-106A>G
XM_017004888.2:c.475A>G	XP_016860377.1:p.Ser159Gly
XM_024453128.1:c.-30A>G	XP_024308896.1:n.-30A>G
XR_001738928.1:n.2315A>G
XR_001738935.1:n.666A>G
XR_001738937.2:n.807A>G
XR_001738938.2:n.807A>G
XR_001738939.1:n.666A>G
XR_001738940.2:n.807A>G
XR_002959337.1:n.682A>G
XR_002959338.1:n.807A>G
XR_923022.1:n.1506A>G
XR_923022.3:n.682A>G
XR_923023.1:n.1506A>G