Canonical Allele Identifier: CA209568

Gene: CACNB4

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.152099007G>A , CM000664.2:g.152099007G>A	GRCh38
NC_000002.11:g.152955521G>A , CM000664.1:g.152955521G>A	GRCh37
NC_000002.10:g.152663767G>A	NCBI36
NG_012641.1:g.5073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000201943.10:c.5C>T	ENSP00000201943.5:p.Ser2Phe
ENST00000427385.6:c.5C>T	ENSP00000410978.2:p.Ser2Phe
ENST00000470066.2:n.134C>T
ENST00000539935.7:c.5C>T MANE Select	ENSP00000438949.1:p.Ser2Phe
ENST00000637309.1:c.5C>T	ENSP00000490127.1:p.Ser2Phe
ENST00000201943.9:c.5C>T	ENSP00000201943.5:p.Ser2Phe
ENST00000539935.5:c.5C>T	ENSP00000438949.1:p.Ser2Phe
NM_000726.3:c.5C>T	NP_000717.2:p.Ser2Phe
NM_001145798.1:c.5C>T	NP_001139270.1:p.Ser2Phe
XM_011511797.1:c.5C>T	XP_011510099.1:p.Ser2Phe
XM_011511798.1:c.5C>T	XP_011510100.1:p.Ser2Phe
XM_011511799.1:c.5C>T	XP_011510101.1:p.Ser2Phe
XR_923022.1:n.982C>T
XR_923023.1:n.982C>T
NM_000726.4:c.5C>T	NP_000717.2:p.Ser2Phe
NM_001145798.2:c.5C>T	NP_001139270.1:p.Ser2Phe
XM_011511797.3:c.5C>T	XP_011510099.1:p.Ser2Phe
XR_002959337.1:n.158C>T
XR_923022.3:n.158C>T
NM_000726.5:c.5C>T MANE Select	NP_000717.2:p.Ser2Phe