Canonical Allele Identifier: CA161623172

Gene: CACNA2D1

Linked Data

• dbSNP Id: rs11978472
• gnomAD v2: 7-81839553-A-C
• gnomAD v3: 7-82210237-A-C
• gnomAD v4: 7-82210237-A-C
• MyVariant Identifiers: chr7:g.81839553A>C (hg19) ; chr7:g.82210237A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82210237A>C , CM000669.2:g.82210237A>C	GRCh38
NC_000007.13:g.81839553A>C , CM000669.1:g.81839553A>C	GRCh37
NC_000007.12:g.81677489A>C	NCBI36
NG_009358.2:g.238479T>G , LRG_437:g.238479T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.295-39628T>G	ENSP00000409374.2:n.295-39628T>G
ENST00000705961.1:c.77-39628T>G
ENST00000705962.1:c.211-39628T>G	ENSP00000516190.1:n.211-39628T>G
ENST00000356860.8:c.295-39628T>G MANE Select	ENSP00000349320.3:n.295-39628T>G
ENST00000356253.9:c.295-39628T>G	ENSP00000348589.5:n.295-39628T>G
ENST00000356860.7:c.295-39628T>G	ENSP00000349320.3:n.295-39628T>G
ENST00000423588.1:c.295-39628T>G	ENSP00000405395.1:n.295-39628T>G
ENST00000484706.1:n.301-39628T>G
NM_000722.3:c.295-39628T>G	NP_000713.2:n.295-39628T>G
NM_001302890.1:c.295-39628T>G	NP_001289819.1:n.295-39628T>G
XM_005250570.1:c.295-39628T>G	XP_005250627.1:n.295-39628T>G
XM_005250572.1:c.295-39628T>G	XP_005250629.1:n.295-39628T>G
XM_005250573.1:c.295-39628T>G	XP_005250630.1:n.295-39628T>G
XM_005250574.1:c.295-39628T>G	XP_005250631.1:n.295-39628T>G
XM_006716118.1:c.295-39628T>G	XP_006716181.1:n.295-39628T>G
XM_006716119.2:c.220-39628T>G	XP_006716182.1:n.220-39628T>G
XM_006716120.2:c.178-39628T>G	XP_006716183.1:n.178-39628T>G
XM_011516570.1:c.295-39628T>G	XP_011514872.1:n.295-39628T>G
XM_011516571.1:c.295-39628T>G	XP_011514873.1:n.295-39628T>G
XM_011516572.1:c.295-39628T>G	XP_011514874.1:n.295-39628T>G
XM_011516573.1:c.63+3689T>G	XP_011514875.1:n.63+3689T>G
XM_011516574.1:c.295-39628T>G	XP_011514876.1:n.295-39628T>G
NM_001366867.1:c.295-39628T>G	NP_001353796.1:n.295-39628T>G
XM_005250572.3:c.295-39628T>G	XP_005250629.1:n.295-39628T>G
XM_005250573.3:c.295-39628T>G	XP_005250630.1:n.295-39628T>G
XM_005250574.3:c.295-39628T>G	XP_005250631.1:n.295-39628T>G
XM_006716118.3:c.295-39628T>G	XP_006716181.1:n.295-39628T>G
XM_006716119.3:c.220-39628T>G	XP_006716182.1:n.220-39628T>G
XM_006716120.3:c.178-39628T>G	XP_006716183.1:n.178-39628T>G
XM_011516570.3:c.295-39628T>G	XP_011514872.1:n.295-39628T>G
XM_011516571.3:c.295-39628T>G	XP_011514873.1:n.295-39628T>G
XM_011516572.3:c.295-39628T>G	XP_011514874.1:n.295-39628T>G
XM_017012588.1:c.178-39628T>G	XP_016868077.1:n.178-39628T>G
XR_001744873.2:n.315-39628T>G
XR_001744874.2:n.315-39628T>G
NM_000722.4:c.295-39628T>G MANE Select	NP_000713.2:n.295-39628T>G
NM_001302890.2:c.295-39628T>G	NP_001289819.1:n.295-39628T>G