Canonical Allele Identifier: CA6387574

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1913131C>T , CM000674.2:g.1913131C>T	GRCh38
NC_000012.11:g.2022297C>T , CM000674.1:g.2022297C>T	GRCh37
NC_000012.10:g.1892558C>T	NCBI36
NG_012663.1:g.10574G>A
NG_012663.2:g.10574G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.318G>A MANE Select	NP_758952.4:p.Lys106=
ENST00000382722.10:c.318G>A MANE Select	ENSP00000372169.4:p.Lys106=
NM_172364.4:c.318G>A	NP_758952.4:p.Lys106=
ENST00000280663.12:n.511G>A
ENST00000382722.9:c.318G>A	ENSP00000372169.4:p.Lys106=
ENST00000444595.6:c.318G>A	ENSP00000403371.2:p.Lys106=
ENST00000585708.5:c.126G>A	ENSP00000467697.1:p.Lys42=
ENST00000585732.1:c.318G>A	ENSP00000468080.1:p.Lys106=
ENST00000586184.5:c.318G>A	ENSP00000465060.1:p.Lys106=
ENST00000587995.5:c.318G>A	ENSP00000465372.1:p.Lys106=
ENST00000588077.5:c.126G>A	ENSP00000468530.1:p.Lys42=
XM_011521041.1:c.318G>A	XP_011519343.1:p.Lys106=
XM_011521041.2:c.318G>A	XP_011519343.1:p.Lys106=
XR_931529.1:n.2710G>A
XR_931530.1:n.2710G>A
XR_931531.1:n.2710G>A