Canonical Allele Identifier: CA6386841

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1856044C>T , CM000674.2:g.1856044C>T	GRCh38
NC_000012.11:g.1965210C>T , CM000674.1:g.1965210C>T	GRCh37
NC_000012.10:g.1835471C>T	NCBI36
NG_012663.1:g.67661G>A
NG_012663.2:g.67661G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.2120G>A MANE Select	NP_758952.4:p.Arg707His
ENST00000382722.10:c.2120G>A MANE Select	ENSP00000372169.4:p.Arg707His
NM_172364.4:c.2120G>A	NP_758952.4:p.Arg707His
ENST00000280663.12:n.2313G>A
ENST00000382722.9:c.2120G>A	ENSP00000372169.4:p.Arg707His
ENST00000444595.6:c.*366G>A	ENSP00000403371.2:n.*366G>A
ENST00000539048.2:n.266G>A
ENST00000585708.5:c.1928G>A	ENSP00000467697.1:p.Arg643His
ENST00000585732.1:c.1703G>A	ENSP00000468080.1:p.Arg568His
ENST00000586184.5:c.2120G>A	ENSP00000465060.1:p.Arg707His
ENST00000587995.5:c.2045G>A	ENSP00000465372.1:p.Arg682His
ENST00000588077.5:c.1928G>A	ENSP00000468530.1:p.Arg643His
XM_011521041.1:c.2057G>A	XP_011519343.1:p.Arg686His
XM_011521041.2:c.2057G>A	XP_011519343.1:p.Arg686His