Canonical Allele Identifier: CA6386878

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1856208G>C , CM000674.2:g.1856208G>C	GRCh38
NC_000012.11:g.1965374G>C , CM000674.1:g.1965374G>C	GRCh37
NC_000012.10:g.1835635G>C	NCBI36
NG_012663.1:g.67497C>G
NG_012663.2:g.67497C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.2030C>G MANE Select	NP_758952.4:p.Pro677Arg
ENST00000382722.10:c.2030C>G MANE Select	ENSP00000372169.4:p.Pro677Arg
NM_172364.4:c.2030C>G	NP_758952.4:p.Pro677Arg
ENST00000280663.12:n.2223C>G
ENST00000382722.9:c.2030C>G	ENSP00000372169.4:p.Pro677Arg
ENST00000444595.6:c.*276C>G	ENSP00000403371.2:n.*276C>G
ENST00000539048.2:n.176C>G
ENST00000585708.5:c.1838C>G	ENSP00000467697.1:p.Pro613Arg
ENST00000585732.1:c.1613C>G	ENSP00000468080.1:p.Pro538Arg
ENST00000586184.5:c.2030C>G	ENSP00000465060.1:p.Pro677Arg
ENST00000587995.5:c.1955C>G	ENSP00000465372.1:p.Pro652Arg
ENST00000588077.5:c.1838C>G	ENSP00000468530.1:p.Pro613Arg
XM_011521041.1:c.1967C>G	XP_011519343.1:p.Pro656Arg
XM_011521041.2:c.1967C>G	XP_011519343.1:p.Pro656Arg