Canonical Allele Identifier: CA1912793

Gene: CACNB4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.152098972C>T , CM000664.2:g.152098972C>T	GRCh38
NC_000002.11:g.152955486C>T , CM000664.1:g.152955486C>T	GRCh37
NC_000002.10:g.152663732C>T	NCBI36
NG_012641.1:g.5108G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000726.5:c.40G>A MANE Select	NP_000717.2:p.Gly14Arg
ENST00000539935.7:c.40G>A MANE Select	ENSP00000438949.1:p.Gly14Arg
NM_000726.3:c.40G>A	NP_000717.2:p.Gly14Arg
NM_000726.4:c.40G>A	NP_000717.2:p.Gly14Arg
NM_001145798.1:c.40G>A	NP_001139270.1:p.Gly14Arg
NM_001145798.2:c.40G>A	NP_001139270.1:p.Gly14Arg
ENST00000201943.10:c.40G>A	ENSP00000201943.5:p.Gly14Arg
ENST00000201943.9:c.40G>A	ENSP00000201943.5:p.Gly14Arg
ENST00000427385.6:c.40G>A	ENSP00000410978.2:p.Gly14Arg
ENST00000470066.2:n.169G>A
ENST00000539935.5:c.40G>A	ENSP00000438949.1:p.Gly14Arg
ENST00000637309.1:c.40G>A	ENSP00000490127.1:p.Gly14Arg
XM_011511797.1:c.40G>A	XP_011510099.1:p.Gly14Arg
XM_011511797.3:c.40G>A	XP_011510099.1:p.Gly14Arg
XM_011511798.1:c.40G>A	XP_011510100.1:p.Gly14Arg
XM_011511799.1:c.40G>A	XP_011510101.1:p.Gly14Arg
XR_002959337.1:n.193G>A
XR_923022.1:n.1017G>A
XR_923022.3:n.193G>A
XR_923023.1:n.1017G>A