Canonical Allele Identifier: CA7799991

Gene: CACNA1H

Linked Data

• ClinVar Variation Id: 2312835
• ClinVar RCV Id: RCV002884700
• dbSNP Id: rs765188969
• ExAC: 16:1252186 A / G
• gnomAD v2: 16-1252186-A-G
• gnomAD v4: 16-1202186-A-G
• MyVariant Identifiers: chr16:g.1252186A>G (hg19) ; chr16:g.1202186A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1202186A>G , CM000678.2:g.1202186A>G	GRCh38
NC_000016.9:g.1252186A>G , CM000678.1:g.1252186A>G	GRCh37
NC_000016.8:g.1192187A>G	NCBI36
NG_012647.1:g.53946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562079.6:c.1736A>G	ENSP00000454581.2:p.Asp579Gly
ENST00000564231.6:c.1736A>G	ENSP00000457555.2:p.Asp579Gly
ENST00000565831.7:c.1736A>G	ENSP00000455840.1:p.Asp579Gly
ENST00000569107.6:c.1736A>G	ENSP00000454990.2:p.Asp579Gly
ENST00000621827.2:c.1736A>G	ENSP00000518766.1:p.Asp579Gly
ENST00000637236.3:c.1736A>G	ENSP00000492650.2:p.Asp579Gly
ENST00000711438.1:c.1697A>G	ENSP00000518754.1:p.Asp566Gly
ENST00000711442.1:c.*1183A>G	ENSP00000518758.1:n.*1183A>G
ENST00000711443.1:n.1001A>G
ENST00000711447.1:c.968A>G	ENSP00000518759.1:p.Asp323Gly
ENST00000711448.1:c.1736A>G	ENSP00000518760.1:p.Asp579Gly
ENST00000711449.1:c.1736A>G	ENSP00000518761.1:p.Asp579Gly
ENST00000711450.1:c.1736A>G	ENSP00000518762.1:p.Asp579Gly
ENST00000711451.1:c.1736A>G	ENSP00000518763.1:p.Asp579Gly
ENST00000711452.1:c.1736A>G	ENSP00000518764.1:p.Asp579Gly
ENST00000711453.1:c.1736A>G	ENSP00000518765.1:p.Asp579Gly
ENST00000711455.1:c.1736A>G	ENSP00000518768.1:p.Asp579Gly
ENST00000711456.1:c.1736A>G	ENSP00000518769.1:p.Asp579Gly
ENST00000711481.1:c.*919A>G	ENSP00000518770.1:n.*919A>G
ENST00000711482.1:c.1736A>G	ENSP00000518771.1:p.Asp579Gly
ENST00000711483.1:c.1736A>G	ENSP00000518772.1:p.Asp579Gly
ENST00000711484.1:c.1736A>G	ENSP00000518773.1:p.Asp579Gly
ENST00000711485.1:c.1736A>G	ENSP00000518774.1:p.Asp579Gly
ENST00000711486.1:c.1736A>G	ENSP00000518775.1:p.Asp579Gly
ENST00000711487.1:c.1736A>G	ENSP00000518776.1:p.Asp579Gly
ENST00000711488.1:c.1736A>G	ENSP00000518777.1:p.Asp579Gly
ENST00000711493.1:c.1736A>G	ENSP00000518778.1:p.Asp579Gly
ENST00000348261.11:c.1736A>G MANE Select	ENSP00000334198.7:p.Asp579Gly
ENST00000565831.6:c.1736A>G	ENSP00000455840.1:p.Asp579Gly
ENST00000638323.1:c.1697A>G	ENSP00000492267.1:p.Asp566Gly
ENST00000639478.1:c.1736A>G	ENSP00000491945.1:p.Asp579Gly
ENST00000640028.1:c.1385+351A>G	ENSP00000491488.1:n.1385+351A>G
ENST00000348261.9:c.1736A>G	ENSP00000334198.7:p.Asp579Gly
ENST00000358590.8:c.1736A>G	ENSP00000351401.4:p.Asp579Gly
ENST00000565831.5:c.1736A>G	ENSP00000455840.1:p.Asp579Gly
NM_001005407.1:c.1736A>G	NP_001005407.1:p.Asp579Gly
NM_021098.2:c.1736A>G	NP_066921.2:p.Asp579Gly
XM_005255652.3:c.1736A>G	XP_005255709.1:p.Asp579Gly
XM_006720963.2:c.1736A>G	XP_006721026.1:p.Asp579Gly
XM_006720964.2:c.1736A>G	XP_006721027.1:p.Asp579Gly
XM_006720965.2:c.1736A>G	XP_006721028.1:p.Asp579Gly
XM_006720967.2:c.1736A>G	XP_006721030.1:p.Asp579Gly
XM_006720968.2:c.1736A>G	XP_006721031.1:p.Asp579Gly
XM_006720969.2:c.1736A>G	XP_006721032.1:p.Asp579Gly
XM_011522724.1:c.1190A>G	XP_011521026.1:p.Asp397Gly
XM_011522726.1:c.1736A>G	XP_011521028.1:p.Asp579Gly
XM_011522727.1:c.1736A>G	XP_011521029.1:p.Asp579Gly
XR_932960.1:n.1838A>G
XM_005255652.4:c.1736A>G	XP_005255709.1:p.Asp579Gly
XM_006720963.3:c.1736A>G	XP_006721026.1:p.Asp579Gly
XM_006720964.3:c.1736A>G	XP_006721027.1:p.Asp579Gly
XM_006720965.3:c.1736A>G	XP_006721028.1:p.Asp579Gly
XM_006720967.3:c.1736A>G	XP_006721030.1:p.Asp579Gly
XM_006720968.3:c.1736A>G	XP_006721031.1:p.Asp579Gly
XM_011522724.2:c.1190A>G	XP_011521026.1:p.Asp397Gly
XM_011522727.3:c.1736A>G	XP_011521029.1:p.Asp579Gly
XM_017023819.1:c.1697A>G	XP_016879308.1:p.Asp566Gly
XM_017023820.1:c.1736A>G	XP_016879309.1:p.Asp579Gly
XM_017023821.1:c.1736A>G	XP_016879310.1:p.Asp579Gly
XR_002957850.1:n.1834A>G
NM_021098.3:c.1736A>G MANE Select	NP_066921.2:p.Asp579Gly
NM_001005407.2:c.1736A>G	NP_001005407.1:p.Asp579Gly