Canonical Allele Identifier: CA199753

Gene: CACNA1H

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1212024A>G , CM000678.2:g.1212024A>G	GRCh38
NC_000016.9:g.1262024A>G , CM000678.1:g.1262024A>G	GRCh37
NC_000016.8:g.1202025A>G	NCBI36
NG_012647.1:g.63784A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562079.6:c.4645A>G	ENSP00000454581.2:p.Met1549Val
ENST00000564231.6:c.4645A>G	ENSP00000457555.2:p.Met1549Val
ENST00000565831.7:c.4645A>G	ENSP00000455840.1:p.Met1549Val
ENST00000569107.6:c.4645A>G	ENSP00000454990.2:p.Met1549Val
ENST00000621827.2:c.4645A>G	ENSP00000518766.1:p.Met1549Val
ENST00000637236.3:c.*615A>G	ENSP00000492650.2:n.*615A>G
ENST00000711438.1:c.4606A>G	ENSP00000518754.1:p.Met1536Val
ENST00000711442.1:c.*4030A>G	ENSP00000518758.1:n.*4030A>G
ENST00000711447.1:c.3865A>G	ENSP00000518759.1:p.Met1289Val
ENST00000711448.1:c.4645A>G	ENSP00000518760.1:p.Met1549Val
ENST00000711449.1:c.4645A>G	ENSP00000518761.1:p.Met1549Val
ENST00000711450.1:c.4583A>G	ENSP00000518762.1:p.His1528Arg
ENST00000711451.1:c.4645A>G	ENSP00000518763.1:p.Met1549Val
ENST00000711452.1:c.4645A>G	ENSP00000518764.1:p.Met1549Val
ENST00000711453.1:c.4645A>G	ENSP00000518765.1:p.Met1549Val
ENST00000711455.1:c.4645A>G	ENSP00000518768.1:p.Met1549Val
ENST00000711456.1:c.4645A>G	ENSP00000518769.1:p.Met1549Val
ENST00000711482.1:c.4645A>G	ENSP00000518771.1:p.Met1549Val
ENST00000711483.1:c.4645A>G	ENSP00000518772.1:p.Met1549Val
ENST00000711484.1:c.4645A>G	ENSP00000518773.1:p.Met1549Val
ENST00000711485.1:c.4645A>G	ENSP00000518774.1:p.Met1549Val
ENST00000711486.1:c.4645A>G	ENSP00000518775.1:p.Met1549Val
ENST00000711487.1:c.4645A>G	ENSP00000518776.1:p.Met1549Val
ENST00000711488.1:c.4645A>G	ENSP00000518777.1:p.Met1549Val
ENST00000711493.1:c.4681A>G	ENSP00000518778.1:p.Met1561Val
ENST00000348261.11:c.4645A>G MANE Select	ENSP00000334198.7:p.Met1549Val
ENST00000565831.6:c.4645A>G	ENSP00000455840.1:p.Met1549Val
ENST00000638323.1:c.4606A>G	ENSP00000492267.1:p.Met1536Val
ENST00000639478.1:c.4583A>G	ENSP00000491945.1:p.His1528Arg
ENST00000640028.1:c.*2496A>G	ENSP00000491488.1:n.*2496A>G
ENST00000348261.9:c.4645A>G	ENSP00000334198.7:p.Met1549Val
ENST00000358590.8:c.4645A>G	ENSP00000351401.4:p.Met1549Val
ENST00000562079.5:c.869A>G
ENST00000564231.5:c.869A>G
ENST00000564927.1:c.294A>G
ENST00000565831.5:c.4645A>G	ENSP00000455840.1:p.Met1549Val
ENST00000569107.5:c.869A>G
NM_001005407.1:c.4645A>G	NP_001005407.1:p.Met1549Val
NM_021098.2:c.4645A>G	NP_066921.2:p.Met1549Val
XM_005255652.3:c.4645A>G	XP_005255709.1:p.Met1549Val
XM_006720963.2:c.4645A>G	XP_006721026.1:p.Met1549Val
XM_006720964.2:c.4645A>G	XP_006721027.1:p.Met1549Val
XM_006720965.2:c.4645A>G	XP_006721028.1:p.Met1549Val
XM_006720967.2:c.4583A>G	XP_006721030.1:p.His1528Arg
XM_006720968.2:c.4583A>G	XP_006721031.1:p.His1528Arg
XM_006720969.2:c.4583A>G	XP_006721032.1:p.His1528Arg
XM_011522724.1:c.4099A>G	XP_011521026.1:p.Met1367Val
XM_011522725.1:c.1696A>G	XP_011521027.1:p.Met566Val
XM_005255652.4:c.4645A>G	XP_005255709.1:p.Met1549Val
XM_006720963.3:c.4645A>G	XP_006721026.1:p.Met1549Val
XM_006720964.3:c.4645A>G	XP_006721027.1:p.Met1549Val
XM_006720965.3:c.4645A>G	XP_006721028.1:p.Met1549Val
XM_006720967.3:c.4583A>G	XP_006721030.1:p.His1528Arg
XM_006720968.3:c.4583A>G	XP_006721031.1:p.His1528Arg
XM_011522724.2:c.4099A>G	XP_011521026.1:p.Met1367Val
XM_017023819.1:c.4606A>G	XP_016879308.1:p.Met1536Val
XM_017023820.1:c.4645A>G	XP_016879309.1:p.Met1549Val
XM_017023821.1:c.4645A>G	XP_016879310.1:p.Met1549Val
NM_021098.3:c.4645A>G MANE Select	NP_066921.2:p.Met1549Val
NM_001005407.2:c.4645A>G	NP_001005407.1:p.Met1549Val