Canonical Allele Identifier: CA10575646

Gene: CACNA1S

Linked Data

• dbSNP Id: rs2297902
• MyVariant Identifiers: chr1:g.201035071G>C (hg19) ; chr1:g.201065943G>C (hg38)
• PubMed: PMID:20301512

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201065943G>C , CM000663.2:g.201065943G>C	GRCh38
NC_000001.10:g.201035071G>C , CM000663.1:g.201035071G>C	GRCh37
NC_000001.9:g.199301694G>C	NCBI36
NG_009816.1:g.51624C>G
NG_009816.2:g.51624C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.2748C>G MANE Select	ENSP00000355192.3:p.His916Gln
ENST00000679417.1:c.*1911C>G	ENSP00000506706.1:n.*1911C>G
ENST00000680059.1:c.*266C>G	ENSP00000504944.1:n.*266C>G
ENST00000681078.1:c.2748C>G	ENSP00000506645.1:p.His916Gln
ENST00000681190.1:c.2748C>G	ENSP00000506428.1:p.His916Gln
ENST00000681874.1:c.2688C>G	ENSP00000505162.1:p.His896Gln
ENST00000362061.3:c.2748C>G	ENSP00000355192.3:p.His916Gln
ENST00000367338.7:c.2748C>G	ENSP00000356307.3:p.His916Gln
NM_000069.2:c.2748C>G	NP_000060.2:p.His916Gln
XM_005245478.2:c.2748C>G	XP_005245535.1:p.His916Gln
XM_005245478.3:c.2748C>G	XP_005245535.1:p.His916Gln
NM_000069.3:c.2748C>G MANE Select	NP_000060.2:p.His916Gln