Canonical Allele Identifier: CA10611039

Gene: CACNB4

Linked Data

• ClinVar Variation Id: 331616
• ClinVar RCV Id: RCV000334968 ; RCV000405646
• dbSNP Id: rs766545084
• gnomAD v2: 2-152694838-A-C
• gnomAD v3: 2-151838324-A-C
• gnomAD v4: 2-151838324-A-C
• MyVariant Identifiers: chr2:g.152694838A>C (hg19) ; chr2:g.151838324A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151838324A>C , CM000664.2:g.151838324A>C	GRCh38
NC_000002.11:g.152694838A>C , CM000664.1:g.152694838A>C	GRCh37
NC_000002.10:g.152403084A>C	NCBI36
NG_012641.1:g.265756T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000534999.7:c.*795T>G	ENSP00000443893.1:n.*795T>G
ENST00000539935.7:c.*795T>G MANE Select	ENSP00000438949.1:n.*795T>G
ENST00000635738.1:c.*1573T>G	ENSP00000489881.1:n.*1573T>G
ENST00000635803.1:n.2429T>G
ENST00000635890.1:c.1347T>G
ENST00000635930.1:c.*1388T>G	ENSP00000489953.1:n.*1388T>G
ENST00000636024.1:c.184+3344T>G
ENST00000636130.1:c.*795T>G	ENSP00000490607.1:n.*795T>G
ENST00000636350.1:c.*795T>G	ENSP00000489621.1:n.*795T>G
ENST00000636442.1:c.*795T>G	ENSP00000489779.1:n.*795T>G
ENST00000636507.1:c.*1573T>G	ENSP00000490252.1:n.*1573T>G
ENST00000636598.1:c.*795T>G	ENSP00000490247.1:n.*795T>G
ENST00000636617.1:c.*795T>G	ENSP00000490660.1:n.*795T>G
ENST00000636762.1:c.*1760T>G	ENSP00000490918.1:n.*1760T>G
ENST00000636773.1:c.*795T>G	ENSP00000489818.1:n.*795T>G
ENST00000636785.1:c.*795T>G	ENSP00000489788.1:n.*795T>G
ENST00000636831.1:n.4090T>G
ENST00000636901.1:c.*795T>G	ENSP00000490145.1:n.*795T>G
ENST00000637132.1:c.*1388T>G	ENSP00000490651.1:n.*1388T>G
ENST00000637217.1:c.*795T>G	ENSP00000490250.1:n.*795T>G
ENST00000637224.1:c.*827+15124T>G	ENSP00000490276.1:n.*827+15124T>G
ENST00000637232.1:c.*1184T>G	ENSP00000490138.1:n.*1184T>G
ENST00000637309.1:c.*1043T>G	ENSP00000490127.1:n.*1043T>G
ENST00000637312.1:c.*1627T>G	ENSP00000490144.1:n.*1627T>G
ENST00000637436.1:c.*2176T>G	ENSP00000489746.1:n.*2176T>G
ENST00000637547.1:c.*795T>G	ENSP00000490124.1:n.*795T>G
ENST00000637550.1:c.*1184T>G	ENSP00000489943.1:n.*1184T>G
ENST00000637559.1:c.*332+3579T>G	ENSP00000489697.1:n.*332+3579T>G
ENST00000637762.1:c.*795T>G	ENSP00000489876.1:n.*795T>G
ENST00000637942.1:n.2509T>G
ENST00000638005.1:c.*795T>G	ENSP00000489677.1:n.*795T>G
ENST00000638091.1:c.*795T>G	ENSP00000489967.1:n.*795T>G
ENST00000539935.5:c.*795T>G	ENSP00000438949.1:n.*795T>G
NM_000726.3:c.*795T>G	NP_000717.2:n.*795T>G
NM_001005746.2:c.*795T>G	NP_001005746.1:n.*795T>G
NM_001005747.2:c.*795T>G	NP_001005747.1:n.*795T>G
NM_001145798.1:c.*795T>G	NP_001139270.1:n.*795T>G
XM_006712731.1:c.*795T>G	XP_006712794.1:n.*795T>G
XM_011511795.1:c.*795T>G	XP_011510097.1:n.*795T>G
XM_011511796.1:c.*795T>G	XP_011510098.1:n.*795T>G
XM_011511797.1:c.*795T>G	XP_011510099.1:n.*795T>G
XM_011511800.1:c.*795T>G	XP_011510102.1:n.*795T>G
NM_000726.4:c.*795T>G	NP_000717.2:n.*795T>G
NM_001005746.3:c.*795T>G	NP_001005746.1:n.*795T>G
NM_001005747.3:c.*795T>G	NP_001005747.1:n.*795T>G
NM_001145798.2:c.*795T>G	NP_001139270.1:n.*795T>G
NM_001320722.2:c.*795T>G	NP_001307651.1:n.*795T>G
NM_001330113.1:c.*795T>G	NP_001317042.1:n.*795T>G
NM_001330114.1:c.*795T>G	NP_001317043.1:n.*795T>G
NM_001330115.1:c.*795T>G	NP_001317044.1:n.*795T>G
NM_001330116.1:c.*795T>G	NP_001317045.1:n.*795T>G
NM_001330117.1:c.*795T>G	NP_001317046.1:n.*795T>G
NM_001330118.1:c.*795T>G	NP_001317047.1:n.*795T>G
XM_011511796.2:c.*795T>G	XP_011510098.1:n.*795T>G
XM_011511797.3:c.*795T>G	XP_011510099.1:n.*795T>G
XM_017004885.1:c.*795T>G	XP_016860374.1:n.*795T>G
XM_024453128.1:c.*795T>G	XP_024308896.1:n.*795T>G
XR_001738928.1:n.4216T>G
XR_001738935.1:n.2326T>G
XR_001738937.2:n.2467T>G
XR_001738938.2:n.3136T>G
XR_001738939.1:n.2436T>G
XR_001738940.2:n.2577T>G
XR_002959337.1:n.2746T>G
XR_002959338.1:n.2708T>G
XR_923022.3:n.2583T>G
NM_001005746.4:c.*795T>G	NP_001005746.1:n.*795T>G
NM_001005747.4:c.*795T>G	NP_001005747.1:n.*795T>G
NM_001320722.3:c.*795T>G	NP_001307651.1:n.*795T>G
NM_001330113.2:c.*795T>G	NP_001317042.1:n.*795T>G
NM_001330114.2:c.*795T>G	NP_001317043.1:n.*795T>G
NM_001330115.2:c.*795T>G	NP_001317044.1:n.*795T>G
NM_001330116.2:c.*795T>G	NP_001317045.1:n.*795T>G
NM_001330117.2:c.*795T>G	NP_001317046.1:n.*795T>G
NM_000726.5:c.*795T>G MANE Select	NP_000717.2:n.*795T>G