Canonical Allele Identifier: CA10632328

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1854008G>C , CM000674.2:g.1854008G>C	GRCh38
NC_000012.11:g.1963174G>C , CM000674.1:g.1963174G>C	GRCh37
NC_000012.10:g.1833435G>C	NCBI36
NG_012663.1:g.69697C>G
NG_012663.2:g.69697C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.2189C>G MANE Select	NP_758952.4:p.Ala730Gly
ENST00000382722.10:c.2189C>G MANE Select	ENSP00000372169.4:p.Ala730Gly
NM_172364.4:c.2189C>G	NP_758952.4:p.Ala730Gly
ENST00000280663.12:n.2382C>G
ENST00000382722.9:c.2189C>G	ENSP00000372169.4:p.Ala730Gly
ENST00000444595.6:c.*435C>G	ENSP00000403371.2:n.*435C>G
ENST00000537784.5:c.30C>G
ENST00000539048.2:n.298+2004C>G
ENST00000585708.5:c.1997C>G	ENSP00000467697.1:p.Ala666Gly
ENST00000585732.1:c.1772C>G	ENSP00000468080.1:p.Ala591Gly
ENST00000586184.5:c.2189C>G	ENSP00000465060.1:p.Ala730Gly
ENST00000587995.5:c.2114C>G	ENSP00000465372.1:p.Ala705Gly
ENST00000588077.5:c.1997C>G	ENSP00000468530.1:p.Ala666Gly
XM_011521041.1:c.2126C>G	XP_011519343.1:p.Ala709Gly
XM_011521041.2:c.2126C>G	XP_011519343.1:p.Ala709Gly