Canonical Allele Identifier: CA2405415122
Gene: CACNA1I HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39679405C= , CM000684.2:g.39679405C= GRCh38
NC_000022.10:g.40075410C= , CM000684.1:g.40075410C= GRCh37
NC_000022.9:g.38405356C= NCBI36
NG_052947.1:g.113653C=

Transcript Alleles

HGVS Amino-acid change
ENST00000402142.4:c.5354C= MANE Select ENSP00000385019.3:p.Thr1785=
ENST00000401624.5:c.5354C= ENSP00000383887.1:p.Thr1785=
ENST00000402142.3:c.5354C= ENSP00000385019.3:p.Thr1785=
ENST00000404898.5:c.5249C= ENSP00000384093.1:p.Thr1750=
ENST00000407673.5:c.5249C= ENSP00000385680.1:p.Thr1750=
NM_001003406.1:c.5249C= NP_001003406.1:p.Thr1750=
NM_021096.3:c.5354C= NP_066919.2:p.Thr1785=
XM_011530480.1:c.5249C= XP_011528782.1:p.Thr1750=
XM_011530481.1:c.5249C= XP_011528783.1:p.Thr1750=
XM_017029035.2:c.3500C= XP_016884524.1:p.Thr1167=
XM_017029036.1:c.3500C= XP_016884525.1:p.Thr1167=
XM_017029037.1:c.3500C= XP_016884526.1:p.Thr1167=
NM_001003406.2:c.5249C= NP_001003406.1:p.Thr1750=
NM_021096.4:c.5354C= MANE Select NP_066919.2:p.Thr1785=