Canonical Allele Identifier: CA353251582

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53801358-T-C
• MyVariant Identifiers: chr3:g.53835385T>C (hg19) ; chr3:g.53801358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801358T>C , CM000665.2:g.53801358T>C	GRCh38
NC_000003.11:g.53835385T>C , CM000665.1:g.53835385T>C	GRCh37
NC_000003.10:g.53810425T>C	NCBI36
NG_032999.1:g.311310T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5401T>C	ENSP00000418014.2:p.Ser1801Pro
ENST00000636633.2:n.2340T>C
ENST00000636999.2:n.776T>C
ENST00000288139.11:c.5401T>C MANE Plus Clinical	ENSP00000288139.3:p.Ser1801Pro
ENST00000350061.11:c.5341T>C MANE Select	ENSP00000288133.5:p.Ser1781Pro
ENST00000422281.7:c.5296T>C	ENSP00000409174.2:p.Ser1766Pro
ENST00000636448.1:c.1462T>C
ENST00000636570.1:c.5296T>C	ENSP00000490183.1:p.Ser1766Pro
ENST00000636629.1:n.697T>C
ENST00000636633.1:n.2340T>C
ENST00000636999.1:n.768T>C
ENST00000637424.1:c.5368T>C	ENSP00000489769.1:p.Ser1790Pro
ENST00000637844.1:n.95T>C
ENST00000288139.8:c.5401T>C	ENSP00000288139.3:p.Ser1801Pro
ENST00000350061.9:c.5341T>C	ENSP00000288133.5:p.Ser1781Pro
ENST00000422281.6:c.5296T>C	ENSP00000409174.2:p.Ser1766Pro
ENST00000481478.1:c.4420T>C	ENSP00000418014.1:p.Ser1474Pro
NM_000720.3:c.5401T>C	NP_000711.1:p.Ser1801Pro
NM_001128839.2:c.5296T>C	NP_001122311.1:p.Ser1766Pro
NM_001128840.2:c.5341T>C	NP_001122312.1:p.Ser1781Pro
XM_005265448.2:c.5296T>C	XP_005265505.1:p.Ser1766Pro
XM_011534094.1:c.5596T>C	XP_011532396.1:p.Ser1866Pro
XM_011534095.1:c.5485T>C	XP_011532397.1:p.Ser1829Pro
XM_011534096.1:c.5407T>C	XP_011532398.1:p.Ser1803Pro
XM_011534097.1:c.5059T>C	XP_011532399.1:p.Ser1687Pro
XM_011534098.1:c.5059T>C	XP_011532400.1:p.Ser1687Pro
XM_011534099.1:c.4684T>C	XP_011532401.1:p.Ser1562Pro
XM_011534100.1:c.5491T>C	XP_011532402.1:p.Ser1831Pro
XM_005265448.3:c.5296T>C	XP_005265505.1:p.Ser1766Pro
XM_011534094.2:c.5596T>C	XP_011532396.1:p.Ser1866Pro
XM_011534096.2:c.5407T>C	XP_011532398.1:p.Ser1803Pro
XM_011534097.2:c.5059T>C	XP_011532399.1:p.Ser1687Pro
XM_011534099.2:c.4684T>C	XP_011532401.1:p.Ser1562Pro
XM_011534100.2:c.5491T>C	XP_011532402.1:p.Ser1831Pro
XM_017007137.1:c.5596T>C	XP_016862626.1:p.Ser1866Pro
XM_017007138.1:c.5593T>C	XP_016862627.1:p.Ser1865Pro
XM_017007139.1:c.5596T>C	XP_016862628.1:p.Ser1866Pro
XM_017007140.1:c.5536T>C	XP_016862629.1:p.Ser1846Pro
XM_017007141.1:c.5536T>C	XP_016862630.1:p.Ser1846Pro
XM_017007142.1:c.5512T>C	XP_016862631.1:p.Ser1838Pro
XM_017007143.1:c.5512T>C	XP_016862632.1:p.Ser1838Pro
XM_017007144.1:c.5512T>C	XP_016862633.1:p.Ser1838Pro
XM_017007145.1:c.5467T>C	XP_016862634.1:p.Ser1823Pro
NM_001128840.3:c.5341T>C MANE Select	NP_001122312.1:p.Ser1781Pro
NM_000720.4:c.5401T>C MANE Plus Clinical	NP_000711.1:p.Ser1801Pro
NM_001128839.3:c.5296T>C	NP_001122311.1:p.Ser1766Pro