Canonical Allele Identifier: CA6386280

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1810567C>T , CM000674.2:g.1810567C>T	GRCh38
NC_000012.11:g.1919733C>T , CM000674.1:g.1919733C>T	GRCh37
NC_000012.10:g.1789994C>T	NCBI36
NG_012663.1:g.113138G>A
NG_012663.2:g.113138G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.2634G>A MANE Select	NP_758952.4:p.Pro878=
ENST00000382722.10:c.2634G>A MANE Select	ENSP00000372169.4:p.Pro878=
NM_172364.4:c.2634G>A	NP_758952.4:p.Pro878=
ENST00000280663.12:n.2827G>A
ENST00000382722.9:c.2634G>A	ENSP00000372169.4:p.Pro878=
ENST00000444595.6:c.*818G>A	ENSP00000403371.2:n.*818G>A
ENST00000536846.6:c.80G>A
ENST00000537784.5:c.475G>A
ENST00000537923.5:c.69G>A	ENSP00000464949.1:p.Pro23=
ENST00000538027.6:c.69G>A	ENSP00000443038.2:p.Pro23=
ENST00000538450.5:c.49-227G>A	ENSP00000446341.1:n.49-227G>A
ENST00000540728.6:n.130G>A
ENST00000541331.5:n.101-227G>A
ENST00000542340.1:n.138-227G>A
ENST00000545595.6:c.49-227G>A	ENSP00000442329.2:n.49-227G>A
ENST00000585385.5:c.69G>A	ENSP00000467333.1:p.Pro23=
ENST00000585708.5:c.2442G>A	ENSP00000467697.1:p.Pro814=
ENST00000585732.1:c.2217G>A	ENSP00000468080.1:p.Pro739=
ENST00000586184.5:c.2634G>A	ENSP00000465060.1:p.Pro878=
ENST00000587995.5:c.2559G>A	ENSP00000465372.1:p.Pro853=
ENST00000588077.5:c.2442G>A	ENSP00000468530.1:p.Pro814=
ENST00000589502.5:n.87G>A
XM_011521041.1:c.2571G>A	XP_011519343.1:p.Pro857=
XM_011521041.2:c.2571G>A	XP_011519343.1:p.Pro857=