Canonical Allele Identifier: CA383350305

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1860203G>C , CM000674.2:g.1860203G>C	GRCh38
NC_000012.11:g.1969369G>C , CM000674.1:g.1969369G>C	GRCh37
NC_000012.10:g.1839630G>C	NCBI36
NG_012663.1:g.63502C>G
NG_012663.2:g.63502C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382722.10:c.1882C>G MANE Select	ENSP00000372169.4:p.Arg628Gly
ENST00000280663.12:n.2075C>G
ENST00000382722.9:c.1882C>G	ENSP00000372169.4:p.Arg628Gly
ENST00000444595.6:c.*128C>G	ENSP00000403371.2:n.*128C>G
ENST00000539048.2:n.28C>G
ENST00000585708.5:c.1690C>G	ENSP00000467697.1:p.Arg564Gly
ENST00000585732.1:c.1465C>G	ENSP00000468080.1:p.Arg489Gly
ENST00000586184.5:c.1882C>G	ENSP00000465060.1:p.Arg628Gly
ENST00000587995.5:c.1807C>G	ENSP00000465372.1:p.Arg603Gly
ENST00000588077.5:c.1690C>G	ENSP00000468530.1:p.Arg564Gly
NM_172364.4:c.1882C>G	NP_758952.4:p.Arg628Gly
XM_011521041.1:c.1819C>G	XP_011519343.1:p.Arg607Gly
XR_931530.1:n.4263C>G
XM_011521041.2:c.1819C>G	XP_011519343.1:p.Arg607Gly
NM_172364.5:c.1882C>G MANE Select	NP_758952.4:p.Arg628Gly