Canonical Allele Identifier: CA10611376

Gene: CACNB4

Linked Data

• ClinVar Variation Id: 331560
• ClinVar RCV Id: RCV000321784 ; RCV000376459
• dbSNP Id: rs187940787
• gnomAD v3: 2-151833997-G-A
• gnomAD v4: 2-151833997-G-A
• MyVariant Identifiers: chr2:g.152690511G>A (hg19) ; chr2:g.151833997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151833997G>A , CM000664.2:g.151833997G>A	GRCh38
NC_000002.11:g.152690511G>A , CM000664.1:g.152690511G>A	GRCh37
NC_000002.10:g.152398757G>A	NCBI36
NG_012641.1:g.270083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534999.7:c.*5122C>T	ENSP00000443893.1:n.*5122C>T
ENST00000539935.7:c.*5122C>T MANE Select	ENSP00000438949.1:n.*5122C>T
ENST00000635738.1:c.*5900C>T	ENSP00000489881.1:n.*5900C>T
ENST00000636024.1:c.184+7671C>T
ENST00000636130.1:c.*5122C>T	ENSP00000490607.1:n.*5122C>T
ENST00000636350.1:c.*5122C>T	ENSP00000489621.1:n.*5122C>T
ENST00000636598.1:c.*5122C>T	ENSP00000490247.1:n.*5122C>T
ENST00000636831.1:n.8417C>T
ENST00000636901.1:c.*5122C>T	ENSP00000490145.1:n.*5122C>T
ENST00000637217.1:c.*5122C>T	ENSP00000490250.1:n.*5122C>T
ENST00000637224.1:c.*828-18798C>T	ENSP00000490276.1:n.*828-18798C>T
ENST00000637309.1:c.*5370C>T	ENSP00000490127.1:n.*5370C>T
ENST00000637547.1:c.*5122C>T	ENSP00000490124.1:n.*5122C>T
ENST00000637559.1:c.*332+7906C>T	ENSP00000489697.1:n.*332+7906C>T
ENST00000539935.5:c.*5122C>T	ENSP00000438949.1:n.*5122C>T
NM_000726.3:c.*5122C>T	NP_000717.2:n.*5122C>T
NM_001005746.2:c.*5122C>T	NP_001005746.1:n.*5122C>T
NM_001005747.2:c.*5122C>T	NP_001005747.1:n.*5122C>T
NM_001145798.1:c.*5122C>T	NP_001139270.1:n.*5122C>T
XM_006712731.1:c.*5122C>T	XP_006712794.1:n.*5122C>T
XM_011511795.1:c.*5122C>T	XP_011510097.1:n.*5122C>T
XM_011511796.1:c.*5122C>T	XP_011510098.1:n.*5122C>T
XM_011511797.1:c.*5122C>T	XP_011510099.1:n.*5122C>T
XM_011511800.1:c.*5122C>T	XP_011510102.1:n.*5122C>T
NM_000726.4:c.*5122C>T	NP_000717.2:n.*5122C>T
NM_001005746.3:c.*5122C>T	NP_001005746.1:n.*5122C>T
NM_001005747.3:c.*5122C>T	NP_001005747.1:n.*5122C>T
NM_001145798.2:c.*5122C>T	NP_001139270.1:n.*5122C>T
NM_001320722.2:c.*5122C>T	NP_001307651.1:n.*5122C>T
NM_001330113.1:c.*5122C>T	NP_001317042.1:n.*5122C>T
NM_001330114.1:c.*5122C>T	NP_001317043.1:n.*5122C>T
NM_001330115.1:c.*5122C>T	NP_001317044.1:n.*5122C>T
NM_001330116.1:c.*5122C>T	NP_001317045.1:n.*5122C>T
NM_001330117.1:c.*5122C>T	NP_001317046.1:n.*5122C>T
NM_001330118.1:c.*5122C>T	NP_001317047.1:n.*5122C>T
XM_011511796.2:c.*5122C>T	XP_011510098.1:n.*5122C>T
XM_011511797.3:c.*5122C>T	XP_011510099.1:n.*5122C>T
XM_017004885.1:c.*5122C>T	XP_016860374.1:n.*5122C>T
XM_024453128.1:c.*5122C>T	XP_024308896.1:n.*5122C>T
XR_001738935.1:n.6653C>T
XR_001738937.2:n.6794C>T
XR_001738939.1:n.6763C>T
XR_001738940.2:n.6904C>T
NM_001005746.4:c.*5122C>T	NP_001005746.1:n.*5122C>T
NM_001005747.4:c.*5122C>T	NP_001005747.1:n.*5122C>T
NM_001320722.3:c.*5122C>T	NP_001307651.1:n.*5122C>T
NM_001330113.2:c.*5122C>T	NP_001317042.1:n.*5122C>T
NM_001330114.2:c.*5122C>T	NP_001317043.1:n.*5122C>T
NM_001330115.2:c.*5122C>T	NP_001317044.1:n.*5122C>T
NM_001330116.2:c.*5122C>T	NP_001317045.1:n.*5122C>T
NM_001330117.2:c.*5122C>T	NP_001317046.1:n.*5122C>T
NM_000726.5:c.*5122C>T MANE Select	NP_000717.2:n.*5122C>T