Canonical Allele Identifier: CA14968507

Gene: CACNA1I

Linked Data

• dbSNP Id: rs3788556
• gnomAD v2: 22-39972162-T-C
• gnomAD v3: 22-39576157-T-C
• gnomAD v4: 22-39576157-T-C
• MyVariant Identifiers: chr22:g.39972162T>C (hg19) ; chr22:g.39576157T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.39576157T>C , CM000684.2:g.39576157T>C	GRCh38
NC_000022.10:g.39972162T>C , CM000684.1:g.39972162T>C	GRCh37
NC_000022.9:g.38302108T>C	NCBI36
NG_052947.1:g.10405T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000402142.4:c.236+5169T>C MANE Select	ENSP00000385019.3:n.236+5169T>C
ENST00000401624.5:c.236+5169T>C	ENSP00000383887.1:n.236+5169T>C
ENST00000402142.3:c.236+5169T>C	ENSP00000385019.3:n.236+5169T>C
ENST00000404898.5:c.236+5169T>C	ENSP00000384093.1:n.236+5169T>C
ENST00000407673.5:c.236+5169T>C	ENSP00000385680.1:n.236+5169T>C
NM_001003406.1:c.236+5169T>C	NP_001003406.1:n.236+5169T>C
NM_021096.3:c.236+5169T>C	NP_066919.2:n.236+5169T>C
XM_011530480.1:c.236+5169T>C	XP_011528782.1:n.236+5169T>C
XM_011530481.1:c.236+5169T>C	XP_011528783.1:n.236+5169T>C
NM_001003406.2:c.236+5169T>C	NP_001003406.1:n.236+5169T>C
NM_021096.4:c.236+5169T>C MANE Select	NP_066919.2:n.236+5169T>C