Canonical Allele Identifier: CA411636192

Gene: CACNA1I

Linked Data

• dbSNP Id: rs1333210759
• MyVariant Identifiers: chr22:g.40075403G>T (hg19) ; chr22:g.39679398G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.39679398G>T , CM000684.2:g.39679398G>T	GRCh38
NC_000022.10:g.40075403G>T , CM000684.1:g.40075403G>T	GRCh37
NC_000022.9:g.38405349G>T	NCBI36
NG_052947.1:g.113646G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000402142.4:c.5347G>T MANE Select	ENSP00000385019.3:p.Gly1783Cys
ENST00000401624.5:c.5347G>T	ENSP00000383887.1:p.Gly1783Cys
ENST00000402142.3:c.5347G>T	ENSP00000385019.3:p.Gly1783Cys
ENST00000404898.5:c.5242G>T	ENSP00000384093.1:p.Gly1748Cys
ENST00000407673.5:c.5242G>T	ENSP00000385680.1:p.Gly1748Cys
NM_001003406.1:c.5242G>T	NP_001003406.1:p.Gly1748Cys
NM_021096.3:c.5347G>T	NP_066919.2:p.Gly1783Cys
XM_011530480.1:c.5242G>T	XP_011528782.1:p.Gly1748Cys
XM_011530481.1:c.5242G>T	XP_011528783.1:p.Gly1748Cys
XM_017029035.2:c.3493G>T	XP_016884524.1:p.Gly1165Cys
XM_017029036.1:c.3493G>T	XP_016884525.1:p.Gly1165Cys
XM_017029037.1:c.3493G>T	XP_016884526.1:p.Gly1165Cys
NM_001003406.2:c.5242G>T	NP_001003406.1:p.Gly1748Cys
NM_021096.4:c.5347G>T MANE Select	NP_066919.2:p.Gly1783Cys