Canonical Allele Identifier: CA2455111

Gene: CACNA1D

Linked Data

• ClinVar Variation Id: 2982169
• ClinVar RCV Id: RCV003842815
• dbSNP Id: rs766812720
• ExAC: 3:53835440 C / T
• gnomAD v2: 3-53835440-C-T
• gnomAD v4: 3-53801413-C-T
• MyVariant Identifiers: chr3:g.53835440C>T (hg19) ; chr3:g.53801413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801413C>T , CM000665.2:g.53801413C>T	GRCh38
NC_000003.11:g.53835440C>T , CM000665.1:g.53835440C>T	GRCh37
NC_000003.10:g.53810480C>T	NCBI36
NG_032999.1:g.311365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5456C>T	ENSP00000418014.2:p.Ser1819Phe
ENST00000636633.2:n.2395C>T
ENST00000636999.2:n.831C>T
ENST00000288139.11:c.5456C>T MANE Plus Clinical	ENSP00000288139.3:p.Ser1819Phe
ENST00000350061.11:c.5396C>T MANE Select	ENSP00000288133.5:p.Ser1799Phe
ENST00000422281.7:c.5351C>T	ENSP00000409174.2:p.Ser1784Phe
ENST00000636448.1:c.1517C>T
ENST00000636570.1:c.5351C>T	ENSP00000490183.1:p.Ser1784Phe
ENST00000636629.1:n.752C>T
ENST00000636633.1:n.2395C>T
ENST00000636999.1:n.823C>T
ENST00000637424.1:c.5423C>T	ENSP00000489769.1:p.Ser1808Phe
ENST00000637844.1:n.150C>T
ENST00000288139.8:c.5456C>T	ENSP00000288139.3:p.Ser1819Phe
ENST00000350061.9:c.5396C>T	ENSP00000288133.5:p.Ser1799Phe
ENST00000422281.6:c.5351C>T	ENSP00000409174.2:p.Ser1784Phe
ENST00000481478.1:c.4475C>T	ENSP00000418014.1:p.Ser1492Phe
NM_000720.3:c.5456C>T	NP_000711.1:p.Ser1819Phe
NM_001128839.2:c.5351C>T	NP_001122311.1:p.Ser1784Phe
NM_001128840.2:c.5396C>T	NP_001122312.1:p.Ser1799Phe
XM_005265448.2:c.5351C>T	XP_005265505.1:p.Ser1784Phe
XM_011534094.1:c.5651C>T	XP_011532396.1:p.Ser1884Phe
XM_011534095.1:c.5540C>T	XP_011532397.1:p.Ser1847Phe
XM_011534096.1:c.5462C>T	XP_011532398.1:p.Ser1821Phe
XM_011534097.1:c.5114C>T	XP_011532399.1:p.Ser1705Phe
XM_011534098.1:c.5114C>T	XP_011532400.1:p.Ser1705Phe
XM_011534099.1:c.4739C>T	XP_011532401.1:p.Ser1580Phe
XM_011534100.1:c.5546C>T	XP_011532402.1:p.Ser1849Phe
XM_005265448.3:c.5351C>T	XP_005265505.1:p.Ser1784Phe
XM_011534094.2:c.5651C>T	XP_011532396.1:p.Ser1884Phe
XM_011534096.2:c.5462C>T	XP_011532398.1:p.Ser1821Phe
XM_011534097.2:c.5114C>T	XP_011532399.1:p.Ser1705Phe
XM_011534099.2:c.4739C>T	XP_011532401.1:p.Ser1580Phe
XM_011534100.2:c.5546C>T	XP_011532402.1:p.Ser1849Phe
XM_017007137.1:c.5651C>T	XP_016862626.1:p.Ser1884Phe
XM_017007138.1:c.5648C>T	XP_016862627.1:p.Ser1883Phe
XM_017007139.1:c.5651C>T	XP_016862628.1:p.Ser1884Phe
XM_017007140.1:c.5591C>T	XP_016862629.1:p.Ser1864Phe
XM_017007141.1:c.5591C>T	XP_016862630.1:p.Ser1864Phe
XM_017007142.1:c.5567C>T	XP_016862631.1:p.Ser1856Phe
XM_017007143.1:c.5567C>T	XP_016862632.1:p.Ser1856Phe
XM_017007144.1:c.5567C>T	XP_016862633.1:p.Ser1856Phe
XM_017007145.1:c.5522C>T	XP_016862634.1:p.Ser1841Phe
NM_001128840.3:c.5396C>T MANE Select	NP_001122312.1:p.Ser1799Phe
NM_000720.4:c.5456C>T MANE Plus Clinical	NP_000711.1:p.Ser1819Phe
NM_001128839.3:c.5351C>T	NP_001122311.1:p.Ser1784Phe