Canonical Allele Identifier: CA528306250

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1224847339
• gnomAD v2: 1-201046394-G-C
• gnomAD v3: 1-201077266-G-C
• gnomAD v4: 1-201077266-G-C
• MyVariant Identifiers: chr1:g.201046394G>C (hg19) ; chr1:g.201077266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077266G>C , CM000663.2:g.201077266G>C	GRCh38
NC_000001.10:g.201046394G>C , CM000663.1:g.201046394G>C	GRCh37
NC_000001.9:g.199313017G>C	NCBI36
NG_009816.1:g.40301C>G
NG_009816.2:g.40301C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1620-139C>G MANE Select	ENSP00000355192.3:n.1620-139C>G
ENST00000679417.1:c.*783-139C>G	ENSP00000506706.1:n.*783-139C>G
ENST00000680059.1:c.1620-139C>G	ENSP00000504944.1:n.1620-139C>G
ENST00000681078.1:c.1620-139C>G	ENSP00000506645.1:n.1620-139C>G
ENST00000681190.1:c.1620-139C>G	ENSP00000506428.1:n.1620-139C>G
ENST00000681874.1:c.1620-139C>G	ENSP00000505162.1:n.1620-139C>G
ENST00000362061.3:c.1620-139C>G	ENSP00000355192.3:n.1620-139C>G
ENST00000367338.7:c.1620-139C>G	ENSP00000356307.3:n.1620-139C>G
NM_000069.2:c.1620-139C>G	NP_000060.2:n.1620-139C>G
XM_005245478.2:c.1620-139C>G	XP_005245535.1:n.1620-139C>G
XM_005245478.3:c.1620-139C>G	XP_005245535.1:n.1620-139C>G
NM_000069.3:c.1620-139C>G MANE Select	NP_000060.2:n.1620-139C>G