Canonical Allele Identifier: CA6387092

Gene: CACNA2D4

Linked Data

• ClinVar Variation Id: 307859
• ClinVar RCV Id: RCV000385980 ; RCV001496272 ; RCV003950044
• dbSNP Id: rs11062013
• ExAC: 12:1988970 C / T
• gnomAD v2: 12-1988970-C-T
• gnomAD v3: 12-1879804-C-T
• gnomAD v4: 12-1879804-C-T
• MyVariant Identifiers: chr12:g.1988970C>T (hg19) ; chr12:g.1879804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1879804C>T , CM000674.2:g.1879804C>T	GRCh38
NC_000012.11:g.1988970C>T , CM000674.1:g.1988970C>T	GRCh37
NC_000012.10:g.1859231C>T	NCBI36
NG_012663.1:g.43901G>A
NG_012663.2:g.43901G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382722.10:c.1563G>A MANE Select	ENSP00000372169.4:p.Thr521=
ENST00000280663.12:n.1756G>A
ENST00000382722.9:c.1563G>A	ENSP00000372169.4:p.Thr521=
ENST00000444595.6:c.1563G>A	ENSP00000403371.2:p.Thr521=
ENST00000585708.5:c.1371G>A	ENSP00000467697.1:p.Thr457=
ENST00000585732.1:c.1218G>A	ENSP00000468080.1:p.Thr406=
ENST00000586184.5:c.1563G>A	ENSP00000465060.1:p.Thr521=
ENST00000587995.5:c.1563G>A	ENSP00000465372.1:p.Thr521=
ENST00000588077.5:c.1371G>A	ENSP00000468530.1:p.Thr457=
NM_172364.4:c.1563G>A	NP_758952.4:p.Thr521=
XM_011521041.1:c.1572G>A	XP_011519343.1:p.Thr524=
XR_931529.1:n.3964G>A
XR_931530.1:n.3964G>A
XR_931531.1:n.3955G>A
XM_011521041.2:c.1572G>A	XP_011519343.1:p.Thr524=
NM_172364.5:c.1563G>A MANE Select	NP_758952.4:p.Thr521=