Canonical Allele Identifier: CA2258969833

Gene: CACNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39176710C>G , CM000679.2:g.39176710C>G	GRCh38
NC_000017.10:g.37332963C>G , CM000679.1:g.37332963C>G	GRCh37
NC_000017.9:g.34586489C>G	NCBI36
NG_052811.1:g.25994G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394303.8:c.1332+640G>C MANE Select	ENSP00000377840.3:n.1332+640G>C
ENST00000394303.7:c.1332+640G>C	ENSP00000377840.3:n.1332+640G>C
ENST00000539338.6:n.3451+640G>C
ENST00000622445.4:c.*661+640G>C	ENSP00000477612.1:n.*661+640G>C
NM_000723.4:c.1332+640G>C	NP_000714.3:n.1332+640G>C
XM_005257645.2:c.1467+640G>C	XP_005257702.1:n.1467+640G>C
XM_005257647.2:c.648+640G>C	XP_005257704.1:n.648+640G>C
XM_006722072.2:c.1326+640G>C	XP_006722135.1:n.1326+640G>C
XM_011525186.1:c.1386+640G>C	XP_011523488.1:n.1386+640G>C
XR_934743.1:n.194-297C>G
XM_017025024.1:c.1335+640G>C	XP_016880513.1:n.1335+640G>C
XM_017025025.1:c.1191+640G>C	XP_016880514.1:n.1191+640G>C
XM_017025026.1:c.831+640G>C	XP_016880515.1:n.831+640G>C
XM_017025027.1:c.648+640G>C	XP_016880516.1:n.648+640G>C
XM_017025028.2:c.648+640G>C	XP_016880517.1:n.648+640G>C
XM_017025029.1:c.648+640G>C	XP_016880518.1:n.648+640G>C
XM_024450920.1:c.831+640G>C	XP_024306688.1:n.831+640G>C
XR_001753098.1:n.1704-494C>G
XR_001753099.1:n.297-494C>G
XR_934743.2:n.297-297C>G
NM_000723.5:c.1332+640G>C MANE Select	NP_000714.3:n.1332+640G>C