Canonical Allele Identifier: CA10612555

Gene: CACNB4

Linked Data

• ClinVar Variation Id: 331593
• ClinVar RCV Id: RCV000317550 ; RCV000372145 ; RCV002510870
• dbSNP Id: rs139629003
• gnomAD v2: 2-152693691-A-G
• gnomAD v3: 2-151837177-A-G
• gnomAD v4: 2-151837177-A-G
• MyVariant Identifiers: chr2:g.152693691A>G (hg19) ; chr2:g.151837177A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151837177A>G , CM000664.2:g.151837177A>G	GRCh38
NC_000002.11:g.152693691A>G , CM000664.1:g.152693691A>G	GRCh37
NC_000002.10:g.152401937A>G	NCBI36
NG_012641.1:g.266903T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000534999.7:c.*1942T>C	ENSP00000443893.1:n.*1942T>C
ENST00000539935.7:c.*1942T>C MANE Select	ENSP00000438949.1:n.*1942T>C
ENST00000635738.1:c.*2720T>C	ENSP00000489881.1:n.*2720T>C
ENST00000635890.1:c.2494T>C
ENST00000635930.1:c.*2535T>C	ENSP00000489953.1:n.*2535T>C
ENST00000636024.1:c.184+4491T>C
ENST00000636130.1:c.*1942T>C	ENSP00000490607.1:n.*1942T>C
ENST00000636350.1:c.*1942T>C	ENSP00000489621.1:n.*1942T>C
ENST00000636442.1:c.*1942T>C	ENSP00000489779.1:n.*1942T>C
ENST00000636507.1:c.*2720T>C	ENSP00000490252.1:n.*2720T>C
ENST00000636598.1:c.*1942T>C	ENSP00000490247.1:n.*1942T>C
ENST00000636617.1:c.*1942T>C	ENSP00000490660.1:n.*1942T>C
ENST00000636773.1:c.*1942T>C	ENSP00000489818.1:n.*1942T>C
ENST00000636785.1:c.*1942T>C	ENSP00000489788.1:n.*1942T>C
ENST00000636831.1:n.5237T>C
ENST00000636901.1:c.*1942T>C	ENSP00000490145.1:n.*1942T>C
ENST00000637132.1:c.*2535T>C	ENSP00000490651.1:n.*2535T>C
ENST00000637217.1:c.*1942T>C	ENSP00000490250.1:n.*1942T>C
ENST00000637224.1:c.*827+16271T>C	ENSP00000490276.1:n.*827+16271T>C
ENST00000637232.1:c.*2331T>C	ENSP00000490138.1:n.*2331T>C
ENST00000637309.1:c.*2190T>C	ENSP00000490127.1:n.*2190T>C
ENST00000637547.1:c.*1942T>C	ENSP00000490124.1:n.*1942T>C
ENST00000637559.1:c.*332+4726T>C	ENSP00000489697.1:n.*332+4726T>C
ENST00000637942.1:n.3656T>C
ENST00000638005.1:c.*1942T>C	ENSP00000489677.1:n.*1942T>C
ENST00000638091.1:c.*1942T>C	ENSP00000489967.1:n.*1942T>C
ENST00000539935.5:c.*1942T>C	ENSP00000438949.1:n.*1942T>C
NM_000726.3:c.*1942T>C	NP_000717.2:n.*1942T>C
NM_001005746.2:c.*1942T>C	NP_001005746.1:n.*1942T>C
NM_001005747.2:c.*1942T>C	NP_001005747.1:n.*1942T>C
NM_001145798.1:c.*1942T>C	NP_001139270.1:n.*1942T>C
XM_006712731.1:c.*1942T>C	XP_006712794.1:n.*1942T>C
XM_011511795.1:c.*1942T>C	XP_011510097.1:n.*1942T>C
XM_011511796.1:c.*1942T>C	XP_011510098.1:n.*1942T>C
XM_011511797.1:c.*1942T>C	XP_011510099.1:n.*1942T>C
XM_011511800.1:c.*1942T>C	XP_011510102.1:n.*1942T>C
NM_000726.4:c.*1942T>C	NP_000717.2:n.*1942T>C
NM_001005746.3:c.*1942T>C	NP_001005746.1:n.*1942T>C
NM_001005747.3:c.*1942T>C	NP_001005747.1:n.*1942T>C
NM_001145798.2:c.*1942T>C	NP_001139270.1:n.*1942T>C
NM_001320722.2:c.*1942T>C	NP_001307651.1:n.*1942T>C
NM_001330113.1:c.*1942T>C	NP_001317042.1:n.*1942T>C
NM_001330114.1:c.*1942T>C	NP_001317043.1:n.*1942T>C
NM_001330115.1:c.*1942T>C	NP_001317044.1:n.*1942T>C
NM_001330116.1:c.*1942T>C	NP_001317045.1:n.*1942T>C
NM_001330117.1:c.*1942T>C	NP_001317046.1:n.*1942T>C
NM_001330118.1:c.*1942T>C	NP_001317047.1:n.*1942T>C
XM_011511796.2:c.*1942T>C	XP_011510098.1:n.*1942T>C
XM_011511797.3:c.*1942T>C	XP_011510099.1:n.*1942T>C
XM_017004885.1:c.*1942T>C	XP_016860374.1:n.*1942T>C
XM_024453128.1:c.*1942T>C	XP_024308896.1:n.*1942T>C
XR_001738935.1:n.3473T>C
XR_001738937.2:n.3614T>C
XR_001738939.1:n.3583T>C
XR_001738940.2:n.3724T>C
NM_001005746.4:c.*1942T>C	NP_001005746.1:n.*1942T>C
NM_001005747.4:c.*1942T>C	NP_001005747.1:n.*1942T>C
NM_001320722.3:c.*1942T>C	NP_001307651.1:n.*1942T>C
NM_001330113.2:c.*1942T>C	NP_001317042.1:n.*1942T>C
NM_001330114.2:c.*1942T>C	NP_001317043.1:n.*1942T>C
NM_001330115.2:c.*1942T>C	NP_001317044.1:n.*1942T>C
NM_001330116.2:c.*1942T>C	NP_001317045.1:n.*1942T>C
NM_001330117.2:c.*1942T>C	NP_001317046.1:n.*1942T>C
NM_000726.5:c.*1942T>C MANE Select	NP_000717.2:n.*1942T>C