Canonical Allele Identifier: CA343845218

Gene: CACNA1E

Linked Data

• ClinVar Variation Id: 487600
• ClinVar RCV Id: RCV000656172 ; RCV002526930
• dbSNP Id: rs766235230
• COSMIC: COSM5527953 ; COSM5527954 ; COSM5527955 ; COSM5527956 ; COSM5527957
• MyVariant Identifiers: chr1:g.181767677C>T (hg19) ; chr1:g.181798541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.181798541C>T , CM000663.2:g.181798541C>T	GRCh38
NC_000001.10:g.181767677C>T , CM000663.1:g.181767677C>T	GRCh37
NC_000001.9:g.180034300C>T	NCBI36
NG_050616.1:g.320231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367570.6:c.6520C>T	ENSP00000356542.1:p.Gln2174Ter
ENST00000700190.1:c.498+1683C>T	ENSP00000514852.1:n.498+1683C>T
ENST00000367573.7:c.6649C>T MANE Select	ENSP00000356545.2:p.Gln2217Ter
ENST00000357570.9:c.6646C>T	ENSP00000350183.6:p.Gln2216Ter
ENST00000358338.7:c.6463C>T	ENSP00000351101.6:p.Gln2155Ter
ENST00000360108.7:c.6592C>T	ENSP00000353222.3:p.Gln2198Ter
ENST00000367567.8:c.6520C>T	ENSP00000356539.5:p.Gln2174Ter
ENST00000367570.5:c.6520C>T	ENSP00000356542.1:p.Gln2174Ter
ENST00000367573.6:c.6649C>T	ENSP00000356545.2:p.Gln2217Ter
ENST00000621551.3:c.6649C>T	ENSP00000483914.1:p.Gln2217Ter
ENST00000621791.4:c.6463C>T	ENSP00000481619.1:p.Gln2155Ter
NM_000721.3:c.6520C>T	NP_000712.2:p.Gln2174Ter
NM_001205293.1:c.6649C>T	NP_001192222.1:p.Gln2217Ter
NM_001205294.1:c.6463C>T	NP_001192223.1:p.Gln2155Ter
XM_011509971.1:c.6592C>T	XP_011508273.1:p.Gln2198Ter
NM_001205293.2:c.6649C>T	NP_001192222.1:p.Gln2217Ter
XM_017002243.1:c.7084C>T	XP_016857732.1:p.Gln2362Ter
XM_017002244.1:c.7084C>T	XP_016857733.1:p.Gln2362Ter
XM_017002245.1:c.7072C>T	XP_016857734.1:p.Gln2358Ter
XM_017002246.1:c.7072C>T	XP_016857735.1:p.Gln2358Ter
XM_017002247.1:c.7027C>T	XP_016857736.1:p.Gln2343Ter
XM_017002248.1:c.7018C>T	XP_016857737.1:p.Gln2340Ter
XM_017002249.1:c.6955C>T	XP_016857738.1:p.Gln2319Ter
XM_017002250.1:c.6898C>T	XP_016857739.1:p.Gln2300Ter
XM_017002251.1:c.7084C>T	XP_016857740.1:p.Gln2362Ter
NM_001205293.3:c.6649C>T MANE Select	NP_001192222.1:p.Gln2217Ter
NM_000721.4:c.6520C>T	NP_000712.2:p.Gln2174Ter
NM_001205294.2:c.6463C>T	NP_001192223.1:p.Gln2155Ter