Canonical Allele Identifier: CA348806577

Gene: CACNB4

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.152098384G>T , CM000664.2:g.152098384G>T	GRCh38
NC_000002.11:g.152954898G>T , CM000664.1:g.152954898G>T	GRCh37
NC_000002.10:g.152663144G>T	NCBI36
NG_012641.1:g.5696C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000201943.10:c.93C>A	ENSP00000201943.5:p.Ser31Arg
ENST00000427385.6:c.93C>A	ENSP00000410978.2:p.Ser31Arg
ENST00000470066.2:n.222C>A
ENST00000539935.7:c.93C>A MANE Select	ENSP00000438949.1:p.Ser31Arg
ENST00000636129.1:c.39C>A	ENSP00000489912.1:p.Ser13Arg
ENST00000636442.1:c.39C>A	ENSP00000489779.1:p.Ser13Arg
ENST00000636496.1:c.-209C>A	ENSP00000490249.1:n.-209C>A
ENST00000636762.1:c.39C>A	ENSP00000490918.1:p.Ser13Arg
ENST00000636785.1:c.39C>A	ENSP00000489788.1:p.Ser13Arg
ENST00000637309.1:c.93C>A	ENSP00000490127.1:p.Ser31Arg
ENST00000637913.1:n.78C>A
ENST00000638005.1:c.39C>A	ENSP00000489677.1:p.Ser13Arg
ENST00000201943.9:c.93C>A	ENSP00000201943.5:p.Ser31Arg
ENST00000427385.5:c.39C>A	ENSP00000410978.1:p.Ser13Arg
ENST00000439467.5:c.78C>A	ENSP00000390161.1:p.Ser26Arg
ENST00000539935.5:c.93C>A	ENSP00000438949.1:p.Ser31Arg
NM_000726.3:c.93C>A	NP_000717.2:p.Ser31Arg
NM_001005746.2:c.39C>A	NP_001005746.1:p.Ser13Arg
NM_001145798.1:c.93C>A	NP_001139270.1:p.Ser31Arg
XM_011511797.1:c.93C>A	XP_011510099.1:p.Ser31Arg
XM_011511798.1:c.93C>A	XP_011510100.1:p.Ser31Arg
XM_011511799.1:c.93C>A	XP_011510101.1:p.Ser31Arg
XR_923022.1:n.1070C>A
XR_923023.1:n.1070C>A
NM_000726.4:c.93C>A	NP_000717.2:p.Ser31Arg
NM_001005746.3:c.39C>A	NP_001005746.1:p.Ser13Arg
NM_001145798.2:c.93C>A	NP_001139270.1:p.Ser31Arg
NM_001330113.1:c.39C>A	NP_001317042.1:p.Ser13Arg
XM_011511797.3:c.93C>A	XP_011510099.1:p.Ser31Arg
XM_017004888.2:c.39C>A	XP_016860377.1:p.Ser13Arg
XR_002959337.1:n.246C>A
XR_923022.3:n.246C>A
NM_001005746.4:c.39C>A	NP_001005746.1:p.Ser13Arg
NM_001330113.2:c.39C>A	NP_001317042.1:p.Ser13Arg
NM_000726.5:c.93C>A MANE Select	NP_000717.2:p.Ser31Arg