Canonical Allele Identifier: CA313374

Gene: CACNB4

Linked Data

• ClinVar Variation Id: 204923
• ClinVar RCV Id: RCV000186826 ; RCV000634989
• dbSNP Id: rs536646578
• ExAC: 2:152955481 C / T
• gnomAD v2: 2-152955481-C-T
• gnomAD v3: 2-152098967-C-T
• gnomAD v4: 2-152098967-C-T
• MyVariant Identifiers: chr2:g.152955481C>T (hg19) ; chr2:g.152098967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.152098967C>T , CM000664.2:g.152098967C>T	GRCh38
NC_000002.11:g.152955481C>T , CM000664.1:g.152955481C>T	GRCh37
NC_000002.10:g.152663727C>T	NCBI36
NG_012641.1:g.5113G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000201943.10:c.45G>A	ENSP00000201943.5:p.Pro15=
ENST00000427385.6:c.45G>A	ENSP00000410978.2:p.Pro15=
ENST00000470066.2:n.174G>A
ENST00000539935.7:c.45G>A MANE Select	ENSP00000438949.1:p.Pro15=
ENST00000637309.1:c.45G>A	ENSP00000490127.1:p.Pro15=
ENST00000201943.9:c.45G>A	ENSP00000201943.5:p.Pro15=
ENST00000539935.5:c.45G>A	ENSP00000438949.1:p.Pro15=
NM_000726.3:c.45G>A	NP_000717.2:p.Pro15=
NM_001145798.1:c.45G>A	NP_001139270.1:p.Pro15=
XM_011511797.1:c.45G>A	XP_011510099.1:p.Pro15=
XM_011511798.1:c.45G>A	XP_011510100.1:p.Pro15=
XM_011511799.1:c.45G>A	XP_011510101.1:p.Pro15=
XR_923022.1:n.1022G>A
XR_923023.1:n.1022G>A
NM_000726.4:c.45G>A	NP_000717.2:p.Pro15=
NM_001145798.2:c.45G>A	NP_001139270.1:p.Pro15=
XM_011511797.3:c.45G>A	XP_011510099.1:p.Pro15=
XR_002959337.1:n.198G>A
XR_923022.3:n.198G>A
NM_000726.5:c.45G>A MANE Select	NP_000717.2:p.Pro15=