Canonical Allele Identifier: CA4317449

Gene: CACNA2D1

Linked Data

• ClinVar Variation Id: 391156
• ClinVar RCV Id: RCV000432199 ; RCV002436345
• dbSNP Id: rs767963200
• ExAC: 7:81591307 G / A
• gnomAD v2: 7-81591307-G-A
• gnomAD v3: 7-81961991-G-A
• gnomAD v4: 7-81961991-G-A
• MyVariant Identifiers: chr7:g.81591307G>A (hg19) ; chr7:g.81961991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81961991G>A , CM000669.2:g.81961991G>A	GRCh38
NC_000007.13:g.81591307G>A , CM000669.1:g.81591307G>A	GRCh37
NC_000007.12:g.81429243G>A	NCBI36
NG_009358.2:g.486725C>T , LRG_437:g.486725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443883.2:c.2905C>T	ENSP00000409374.2:p.Leu969=
ENST00000705961.1:c.2636C>T
ENST00000705962.1:c.2749C>T	ENSP00000516190.1:p.Leu917=
ENST00000356860.8:c.2869C>T MANE Select	ENSP00000349320.3:p.Leu957=
ENST00000356253.9:c.2905C>T	ENSP00000348589.5:p.Leu969=
ENST00000356860.7:c.2869C>T	ENSP00000349320.3:p.Leu957=
ENST00000469297.1:n.316C>T
NM_000722.3:c.2869C>T	NP_000713.2:p.Leu957=
XM_005250570.1:c.2905C>T	XP_005250627.1:p.Leu969=
XM_005250572.1:c.2854C>T	XP_005250629.1:p.Leu952=
XM_005250573.1:c.2848C>T	XP_005250630.1:p.Leu950=
XM_005250574.1:c.2833C>T	XP_005250631.1:p.Leu945=
XM_006716118.1:c.2926C>T	XP_006716181.1:p.Leu976=
XM_006716119.2:c.2851C>T	XP_006716182.1:p.Leu951=
XM_006716120.2:c.2809C>T	XP_006716183.1:p.Leu937=
XM_006716121.2:c.1336C>T	XP_006716184.1:p.Leu446=
XM_011516570.1:c.2926C>T	XP_011514872.1:p.Leu976=
XM_011516571.1:c.2911C>T	XP_011514873.1:p.Leu971=
XM_011516572.1:c.2890C>T	XP_011514874.1:p.Leu964=
XM_011516573.1:c.2695C>T	XP_011514875.1:p.Leu899=
NM_001366867.1:c.2905C>T	NP_001353796.1:p.Leu969=
XM_005250572.3:c.2854C>T	XP_005250629.1:p.Leu952=
XM_005250573.3:c.2848C>T	XP_005250630.1:p.Leu950=
XM_005250574.3:c.2833C>T	XP_005250631.1:p.Leu945=
XM_006716118.3:c.2926C>T	XP_006716181.1:p.Leu976=
XM_006716119.3:c.2851C>T	XP_006716182.1:p.Leu951=
XM_006716120.3:c.2809C>T	XP_006716183.1:p.Leu937=
XM_006716121.3:c.1336C>T	XP_006716184.1:p.Leu446=
XM_011516570.3:c.2926C>T	XP_011514872.1:p.Leu976=
XM_011516571.3:c.2911C>T	XP_011514873.1:p.Leu971=
XM_011516572.3:c.2890C>T	XP_011514874.1:p.Leu964=
XM_017012588.1:c.2752C>T	XP_016868077.1:p.Leu918=
XR_001744874.2:n.2662C>T
NM_000722.4:c.2869C>T MANE Select	NP_000713.2:p.Leu957=