Canonical Allele Identifier: CA6386941

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1860156G>T , CM000674.2:g.1860156G>T	GRCh38
NC_000012.11:g.1969322G>T , CM000674.1:g.1969322G>T	GRCh37
NC_000012.10:g.1839583G>T	NCBI36
NG_012663.1:g.63549C>A
NG_012663.2:g.63549C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.1929C>A MANE Select	NP_758952.4:p.Asp643Glu
ENST00000382722.10:c.1929C>A MANE Select	ENSP00000372169.4:p.Asp643Glu
NM_172364.4:c.1929C>A	NP_758952.4:p.Asp643Glu
ENST00000280663.12:n.2122C>A
ENST00000382722.9:c.1929C>A	ENSP00000372169.4:p.Asp643Glu
ENST00000444595.6:c.*175C>A	ENSP00000403371.2:n.*175C>A
ENST00000539048.2:n.75C>A
ENST00000585708.5:c.1737C>A	ENSP00000467697.1:p.Asp579Glu
ENST00000585732.1:c.1512C>A	ENSP00000468080.1:p.Asp504Glu
ENST00000586184.5:c.1929C>A	ENSP00000465060.1:p.Asp643Glu
ENST00000587995.5:c.1854C>A	ENSP00000465372.1:p.Asp618Glu
ENST00000588077.5:c.1737C>A	ENSP00000468530.1:p.Asp579Glu
XM_011521041.1:c.1866C>A	XP_011519343.1:p.Asp622Glu
XM_011521041.2:c.1866C>A	XP_011519343.1:p.Asp622Glu
XR_931530.1:n.4310C>A