Canonical Allele Identifier: CA065184

Gene: CACNA1G

Linked Data

• ClinVar Variation Id: 221981
• ClinVar RCV Id: RCV000207440 ; RCV000509294 ; RCV000763013 ; RCV001267950
• dbSNP Id: rs755221106
• MyVariant Identifiers: chr17:g.48694921G>A (hg19) ; chr17:g.50617560G>A (hg38)
• PubMed: PMID:26456284 ; PMID:26715324

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50617560G>A , CM000679.2:g.50617560G>A	GRCh38
NC_000017.10:g.48694921G>A , CM000679.1:g.48694921G>A	GRCh37
NC_000017.9:g.46049920G>A	NCBI36
NG_032024.1:g.61493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359106.10:c.5144G>A MANE Select	ENSP00000352011.5:p.Arg1715His
ENST00000352832.9:c.5042G>A	ENSP00000339302.5:p.Arg1681His
ENST00000354983.8:c.5042G>A	ENSP00000347078.4:p.Arg1681His
ENST00000358244.9:c.5042G>A	ENSP00000350979.5:p.Arg1681His
ENST00000359106.9:c.5144G>A	ENSP00000352011.5:p.Arg1715His
ENST00000360761.8:c.5075G>A	ENSP00000353990.4:p.Arg1692His
ENST00000429973.6:c.5090G>A	ENSP00000414388.2:p.Arg1697His
ENST00000442258.6:c.5021G>A	ENSP00000409759.2:p.Arg1674His
ENST00000502264.5:c.5075G>A	ENSP00000425522.1:p.Arg1692His
ENST00000503436.5:c.5075G>A	ENSP00000427231.1:p.Arg1692His
ENST00000503485.5:c.5042G>A	ENSP00000427238.1:p.Arg1681His
ENST00000503607.5:c.5021G>A	ENSP00000426558.1:p.Arg1674His
ENST00000504076.5:c.5111G>A	ENSP00000425153.1:p.Arg1704His
ENST00000505165.5:c.5144G>A	ENSP00000422268.1:p.Arg1715His
ENST00000506406.5:c.5144G>A	ENSP00000426313.1:p.Arg1715His
ENST00000507336.5:c.5111G>A	ENSP00000420918.1:p.Arg1704His
ENST00000507510.6:c.5144G>A	ENSP00000423112.2:p.Arg1715His
ENST00000507609.5:c.5144G>A	ENSP00000423045.1:p.Arg1715His
ENST00000507896.5:c.5111G>A	ENSP00000421518.1:p.Arg1704His
ENST00000510115.5:c.5042G>A	ENSP00000427173.1:p.Arg1681His
ENST00000510366.5:c.4988G>A	ENSP00000426814.1:p.Arg1663His
ENST00000511765.5:c.5090G>A	ENSP00000427247.1:p.Arg1697His
ENST00000511768.5:c.5075G>A	ENSP00000424664.1:p.Arg1692His
ENST00000512389.5:c.5111G>A	ENSP00000426261.1:p.Arg1704His
ENST00000513689.6:c.5009G>A	ENSP00000426172.2:p.Arg1670His
ENST00000513964.5:c.5009G>A	ENSP00000425451.1:p.Arg1670His
ENST00000514079.5:c.5165G>A	ENSP00000423317.1:p.Arg1722His
ENST00000514181.5:c.5090G>A	ENSP00000425698.1:p.Arg1697His
ENST00000514717.5:c.4973G>A	ENSP00000422407.1:p.Arg1658His
ENST00000515165.5:c.5144G>A	ENSP00000426098.1:p.Arg1715His
ENST00000515411.5:c.5090G>A	ENSP00000423155.1:p.Arg1697His
ENST00000515765.5:c.5111G>A	ENSP00000426232.1:p.Arg1704His
NM_001256324.1:c.5090G>A	NP_001243253.1:p.Arg1697His
NM_001256325.1:c.5165G>A	NP_001243254.1:p.Arg1722His
NM_001256326.1:c.5009G>A	NP_001243255.1:p.Arg1670His
NM_001256327.1:c.5144G>A	NP_001243256.1:p.Arg1715His
NM_001256328.1:c.5090G>A	NP_001243257.1:p.Arg1697His
NM_001256329.1:c.5042G>A	NP_001243258.1:p.Arg1681His
NM_001256330.1:c.5009G>A	NP_001243259.1:p.Arg1670His
NM_001256331.1:c.4988G>A	NP_001243260.1:p.Arg1663His
NM_001256332.1:c.4973G>A	NP_001243261.1:p.Arg1658His
NM_001256333.1:c.5144G>A	NP_001243262.1:p.Arg1715His
NM_001256334.1:c.5111G>A	NP_001243263.1:p.Arg1704His
NM_001256359.1:c.5063G>A	NP_001243288.1:p.Arg1688His
NM_001256360.1:c.5036G>A	NP_001243289.1:p.Arg1679His
NM_001256361.1:c.5030G>A	NP_001243290.1:p.Arg1677His
NM_018896.4:c.5144G>A	NP_061496.2:p.Arg1715His
NM_198376.2:c.5042G>A	NP_938190.1:p.Arg1681His
NM_198377.2:c.5111G>A	NP_938191.2:p.Arg1704His
NM_198378.2:c.5111G>A	NP_938192.1:p.Arg1704His
NM_198379.2:c.5042G>A	NP_938193.1:p.Arg1681His
NM_198380.2:c.5111G>A	NP_938194.1:p.Arg1704His
NM_198382.2:c.5075G>A	NP_938196.1:p.Arg1692His
NM_198383.2:c.5075G>A	NP_938197.1:p.Arg1692His
NM_198384.2:c.5144G>A	NP_938198.1:p.Arg1715His
NM_198385.2:c.5144G>A	NP_938199.1:p.Arg1715His
NM_198386.2:c.5090G>A	NP_938200.1:p.Arg1697His
NM_198387.2:c.5042G>A	NP_938201.1:p.Arg1681His
NM_198388.2:c.5021G>A	NP_938202.1:p.Arg1674His
NM_198396.2:c.5042G>A	NP_938406.1:p.Arg1681His
NR_046054.1:n.5536G>A
NR_046055.1:n.5503G>A
NR_046056.1:n.5482G>A
NR_046057.1:n.5467G>A
NR_046058.1:n.5413G>A
XM_006722160.2:c.5096G>A	XP_006722223.1:p.Arg1699His
XM_006722161.2:c.5024G>A	XP_006722224.1:p.Arg1675His
XM_011525440.1:c.5165G>A	XP_011523742.1:p.Arg1722His
XM_006722160.4:c.5096G>A	XP_006722223.1:p.Arg1699His
XM_006722161.4:c.5024G>A	XP_006722224.1:p.Arg1675His
NM_018896.5:c.5144G>A MANE Select	NP_061496.2:p.Arg1715His
NM_001256324.2:c.5090G>A	NP_001243253.1:p.Arg1697His
NM_001256325.2:c.5165G>A	NP_001243254.1:p.Arg1722His
NM_001256326.2:c.5009G>A	NP_001243255.1:p.Arg1670His
NM_001256327.2:c.5144G>A	NP_001243256.1:p.Arg1715His
NM_001256328.2:c.5090G>A	NP_001243257.1:p.Arg1697His
NM_001256329.2:c.5042G>A	NP_001243258.1:p.Arg1681His
NM_001256330.2:c.5009G>A	NP_001243259.1:p.Arg1670His
NM_001256331.2:c.4988G>A	NP_001243260.1:p.Arg1663His
NM_001256332.2:c.4973G>A	NP_001243261.1:p.Arg1658His
NM_001256333.2:c.5144G>A	NP_001243262.1:p.Arg1715His
NM_001256334.2:c.5111G>A	NP_001243263.1:p.Arg1704His
NM_001256359.2:c.5063G>A	NP_001243288.1:p.Arg1688His
NM_001256360.2:c.5036G>A	NP_001243289.1:p.Arg1679His
NM_001256361.2:c.5030G>A	NP_001243290.1:p.Arg1677His
NM_198376.3:c.5042G>A	NP_938190.1:p.Arg1681His
NM_198377.3:c.5111G>A	NP_938191.2:p.Arg1704His
NM_198378.3:c.5111G>A	NP_938192.1:p.Arg1704His
NM_198379.3:c.5042G>A	NP_938193.1:p.Arg1681His
NM_198380.3:c.5111G>A	NP_938194.1:p.Arg1704His
NM_198383.3:c.5075G>A	NP_938197.1:p.Arg1692His
NM_198384.3:c.5144G>A	NP_938198.1:p.Arg1715His
NM_198385.3:c.5144G>A	NP_938199.1:p.Arg1715His
NM_198386.3:c.5090G>A	NP_938200.1:p.Arg1697His
NM_198387.3:c.5042G>A	NP_938201.1:p.Arg1681His
NM_198388.3:c.5021G>A	NP_938202.1:p.Arg1674His
NR_046054.2:n.5889G>A
NR_046055.2:n.5856G>A
NR_046056.2:n.5835G>A
NR_046057.2:n.5820G>A
NR_046058.2:n.5766G>A
NM_198382.3:c.5075G>A	NP_938196.1:p.Arg1692His
NM_198396.3:c.5042G>A	NP_938406.1:p.Arg1681His