Canonical Allele Identifier: CA411636247

Gene: CACNA1I

Linked Data

• MyVariant Identifiers: chr22:g.40075412G>C (hg19) ; chr22:g.39679407G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.39679407G>C , CM000684.2:g.39679407G>C	GRCh38
NC_000022.10:g.40075412G>C , CM000684.1:g.40075412G>C	GRCh37
NC_000022.9:g.38405358G>C	NCBI36
NG_052947.1:g.113655G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000402142.4:c.5356G>C MANE Select	ENSP00000385019.3:p.Glu1786Gln
ENST00000401624.5:c.5356G>C	ENSP00000383887.1:p.Glu1786Gln
ENST00000402142.3:c.5356G>C	ENSP00000385019.3:p.Glu1786Gln
ENST00000404898.5:c.5251G>C	ENSP00000384093.1:p.Glu1751Gln
ENST00000407673.5:c.5251G>C	ENSP00000385680.1:p.Glu1751Gln
NM_001003406.1:c.5251G>C	NP_001003406.1:p.Glu1751Gln
NM_021096.3:c.5356G>C	NP_066919.2:p.Glu1786Gln
XM_011530480.1:c.5251G>C	XP_011528782.1:p.Glu1751Gln
XM_011530481.1:c.5251G>C	XP_011528783.1:p.Glu1751Gln
XM_017029035.2:c.3502G>C	XP_016884524.1:p.Glu1168Gln
XM_017029036.1:c.3502G>C	XP_016884525.1:p.Glu1168Gln
XM_017029037.1:c.3502G>C	XP_016884526.1:p.Glu1168Gln
NM_001003406.2:c.5251G>C	NP_001003406.1:p.Glu1751Gln
NM_021096.4:c.5356G>C MANE Select	NP_066919.2:p.Glu1786Gln