Canonical Allele Identifier: CA313402

Gene: CACNB4

Linked Data

• ClinVar Variation Id: 204938
• ClinVar RCV Id: RCV002517842
• dbSNP Id: rs542973906
• ExAC: 2:152955518 G / A
• gnomAD v2: 2-152955518-G-A
• gnomAD v3: 2-152099004-G-A
• gnomAD v4: 2-152099004-G-A
• MyVariant Identifiers: chr2:g.152955518G>A (hg19) ; chr2:g.152099004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.152099004G>A , CM000664.2:g.152099004G>A	GRCh38
NC_000002.11:g.152955518G>A , CM000664.1:g.152955518G>A	GRCh37
NC_000002.10:g.152663764G>A	NCBI36
NG_012641.1:g.5076C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000201943.10:c.8C>T	ENSP00000201943.5:p.Ser3Phe
ENST00000427385.6:c.8C>T	ENSP00000410978.2:p.Ser3Phe
ENST00000470066.2:n.137C>T
ENST00000539935.7:c.8C>T MANE Select	ENSP00000438949.1:p.Ser3Phe
ENST00000637309.1:c.8C>T	ENSP00000490127.1:p.Ser3Phe
ENST00000201943.9:c.8C>T	ENSP00000201943.5:p.Ser3Phe
ENST00000539935.5:c.8C>T	ENSP00000438949.1:p.Ser3Phe
NM_000726.3:c.8C>T	NP_000717.2:p.Ser3Phe
NM_001145798.1:c.8C>T	NP_001139270.1:p.Ser3Phe
XM_011511797.1:c.8C>T	XP_011510099.1:p.Ser3Phe
XM_011511798.1:c.8C>T	XP_011510100.1:p.Ser3Phe
XM_011511799.1:c.8C>T	XP_011510101.1:p.Ser3Phe
XR_923022.1:n.985C>T
XR_923023.1:n.985C>T
NM_000726.4:c.8C>T	NP_000717.2:p.Ser3Phe
NM_001145798.2:c.8C>T	NP_001139270.1:p.Ser3Phe
XM_011511797.3:c.8C>T	XP_011510099.1:p.Ser3Phe
XR_002959337.1:n.161C>T
XR_923022.3:n.161C>T
NM_000726.5:c.8C>T MANE Select	NP_000717.2:p.Ser3Phe