Canonical Allele Identifier: CA6386663

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1840792G>A , CM000674.2:g.1840792G>A	GRCh38
NC_000012.11:g.1949958G>A , CM000674.1:g.1949958G>A	GRCh37
NC_000012.10:g.1820219G>A	NCBI36
NG_012663.1:g.82913C>T
NG_012663.2:g.82913C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.2498C>T MANE Select	NP_758952.4:p.Thr833Met
ENST00000382722.10:c.2498C>T MANE Select	ENSP00000372169.4:p.Thr833Met
NM_172364.4:c.2498C>T	NP_758952.4:p.Thr833Met
ENST00000280663.12:n.2691C>T
ENST00000382722.9:c.2498C>T	ENSP00000372169.4:p.Thr833Met
ENST00000444595.6:c.*744C>T	ENSP00000403371.2:n.*744C>T
ENST00000537784.5:c.339C>T
ENST00000585708.5:c.2306C>T	ENSP00000467697.1:p.Thr769Met
ENST00000585732.1:c.2081C>T	ENSP00000468080.1:p.Thr694Met
ENST00000586184.5:c.2498C>T	ENSP00000465060.1:p.Thr833Met
ENST00000587995.5:c.2423C>T	ENSP00000465372.1:p.Thr808Met
ENST00000588077.5:c.2306C>T	ENSP00000468530.1:p.Thr769Met
XM_011521041.1:c.2435C>T	XP_011519343.1:p.Thr812Met
XM_011521041.2:c.2435C>T	XP_011519343.1:p.Thr812Met