Canonical Allele Identifier: CA353250999

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53801312-A-C
• MyVariant Identifiers: chr3:g.53835339A>C (hg19) ; chr3:g.53801312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801312A>C , CM000665.2:g.53801312A>C	GRCh38
NC_000003.11:g.53835339A>C , CM000665.1:g.53835339A>C	GRCh37
NC_000003.10:g.53810379A>C	NCBI36
NG_032999.1:g.311264A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5355A>C	ENSP00000418014.2:p.Lys1785Asn
ENST00000636633.2:n.2294A>C
ENST00000636999.2:n.730A>C
ENST00000288139.11:c.5355A>C MANE Plus Clinical	ENSP00000288139.3:p.Lys1785Asn
ENST00000350061.11:c.5295A>C MANE Select	ENSP00000288133.5:p.Lys1765Asn
ENST00000422281.7:c.5250A>C	ENSP00000409174.2:p.Lys1750Asn
ENST00000636448.1:c.1416A>C
ENST00000636570.1:c.5250A>C	ENSP00000490183.1:p.Lys1750Asn
ENST00000636629.1:n.651A>C
ENST00000636633.1:n.2294A>C
ENST00000636999.1:n.722A>C
ENST00000637424.1:c.5322A>C	ENSP00000489769.1:p.Lys1774Asn
ENST00000637844.1:n.49A>C
ENST00000288139.8:c.5355A>C	ENSP00000288139.3:p.Lys1785Asn
ENST00000350061.9:c.5295A>C	ENSP00000288133.5:p.Lys1765Asn
ENST00000422281.6:c.5250A>C	ENSP00000409174.2:p.Lys1750Asn
ENST00000481478.1:c.4374A>C	ENSP00000418014.1:p.Lys1458Asn
NM_000720.3:c.5355A>C	NP_000711.1:p.Lys1785Asn
NM_001128839.2:c.5250A>C	NP_001122311.1:p.Lys1750Asn
NM_001128840.2:c.5295A>C	NP_001122312.1:p.Lys1765Asn
XM_005265448.2:c.5250A>C	XP_005265505.1:p.Lys1750Asn
XM_011534094.1:c.5550A>C	XP_011532396.1:p.Lys1850Asn
XM_011534095.1:c.5439A>C	XP_011532397.1:p.Lys1813Asn
XM_011534096.1:c.5361A>C	XP_011532398.1:p.Lys1787Asn
XM_011534097.1:c.5013A>C	XP_011532399.1:p.Lys1671Asn
XM_011534098.1:c.5013A>C	XP_011532400.1:p.Lys1671Asn
XM_011534099.1:c.4638A>C	XP_011532401.1:p.Lys1546Asn
XM_011534100.1:c.5445A>C	XP_011532402.1:p.Lys1815Asn
XM_005265448.3:c.5250A>C	XP_005265505.1:p.Lys1750Asn
XM_011534094.2:c.5550A>C	XP_011532396.1:p.Lys1850Asn
XM_011534096.2:c.5361A>C	XP_011532398.1:p.Lys1787Asn
XM_011534097.2:c.5013A>C	XP_011532399.1:p.Lys1671Asn
XM_011534099.2:c.4638A>C	XP_011532401.1:p.Lys1546Asn
XM_011534100.2:c.5445A>C	XP_011532402.1:p.Lys1815Asn
XM_017007137.1:c.5550A>C	XP_016862626.1:p.Lys1850Asn
XM_017007138.1:c.5547A>C	XP_016862627.1:p.Lys1849Asn
XM_017007139.1:c.5550A>C	XP_016862628.1:p.Lys1850Asn
XM_017007140.1:c.5490A>C	XP_016862629.1:p.Lys1830Asn
XM_017007141.1:c.5490A>C	XP_016862630.1:p.Lys1830Asn
XM_017007142.1:c.5466A>C	XP_016862631.1:p.Lys1822Asn
XM_017007143.1:c.5466A>C	XP_016862632.1:p.Lys1822Asn
XM_017007144.1:c.5466A>C	XP_016862633.1:p.Lys1822Asn
XM_017007145.1:c.5421A>C	XP_016862634.1:p.Lys1807Asn
NM_001128840.3:c.5295A>C MANE Select	NP_001122312.1:p.Lys1765Asn
NM_000720.4:c.5355A>C MANE Plus Clinical	NP_000711.1:p.Lys1785Asn
NM_001128839.3:c.5250A>C	NP_001122311.1:p.Lys1750Asn