Canonical Allele Identifier: CA10640595

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1918545G>A , CM000674.2:g.1918545G>A	GRCh38
NC_000012.11:g.2027711G>A , CM000674.1:g.2027711G>A	GRCh37
NC_000012.10:g.1897972G>A	NCBI36
NG_012663.1:g.5160C>T
NG_012663.2:g.5160C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.-72C>T MANE Select	NP_758952.4:n.-72C>T
ENST00000382722.10:c.-72C>T MANE Select	ENSP00000372169.4:n.-72C>T
NM_172364.4:c.-72C>T	NP_758952.4:n.-72C>T
ENST00000280663.12:n.122C>T
ENST00000382722.9:c.-72C>T	ENSP00000372169.4:n.-72C>T
ENST00000444595.6:c.-72C>T	ENSP00000403371.2:n.-72C>T
ENST00000585732.1:c.-72C>T	ENSP00000468080.1:n.-72C>T
XM_011521041.1:c.-72C>T	XP_011519343.1:n.-72C>T
XM_011521041.2:c.-72C>T	XP_011519343.1:n.-72C>T
XR_002957441.1:n.1849+516G>A
XR_931529.1:n.2321C>T
XR_931530.1:n.2321C>T
XR_931531.1:n.2321C>T