Canonical Allele Identifier: CA344119541

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 3069483
• ClinVar RCV Id: RCV004008027
• gnomAD v4: 1-201076947-A-T
• MyVariant Identifiers: chr1:g.201046075A>T (hg19) ; chr1:g.201076947A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201076947A>T , CM000663.2:g.201076947A>T	GRCh38
NC_000001.10:g.201046075A>T , CM000663.1:g.201046075A>T	GRCh37
NC_000001.9:g.199312698A>T	NCBI36
NG_009816.1:g.40620T>A
NG_009816.2:g.40620T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1800T>A MANE Select	ENSP00000355192.3:p.Phe600Leu
ENST00000679417.1:c.*963T>A	ENSP00000506706.1:n.*963T>A
ENST00000680059.1:c.1800T>A	ENSP00000504944.1:p.Phe600Leu
ENST00000681078.1:c.1800T>A	ENSP00000506645.1:p.Phe600Leu
ENST00000681190.1:c.1800T>A	ENSP00000506428.1:p.Phe600Leu
ENST00000681874.1:c.1800T>A	ENSP00000505162.1:p.Phe600Leu
ENST00000362061.3:c.1800T>A	ENSP00000355192.3:p.Phe600Leu
ENST00000367338.7:c.1800T>A	ENSP00000356307.3:p.Phe600Leu
NM_000069.2:c.1800T>A	NP_000060.2:p.Phe600Leu
XM_005245478.2:c.1800T>A	XP_005245535.1:p.Phe600Leu
XM_005245478.3:c.1800T>A	XP_005245535.1:p.Phe600Leu
NM_000069.3:c.1800T>A MANE Select	NP_000060.2:p.Phe600Leu