Canonical Allele Identifier: CA1912792
Community Standard Title: NM_000726.5(CACNB4):c.40G>C (p.Gly14Arg)
Gene: CACNB4 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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