Canonical Allele Identifier: CA6386694

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1844390G>A , CM000674.2:g.1844390G>A	GRCh38
NC_000012.11:g.1953556G>A , CM000674.1:g.1953556G>A	GRCh37
NC_000012.10:g.1823817G>A	NCBI36
NG_012663.1:g.79315C>T
NG_012663.2:g.79315C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.2470+12C>T MANE Select	NP_758952.4:n.2470+12C>T
ENST00000382722.10:c.2470+12C>T MANE Select	ENSP00000372169.4:n.2470+12C>T
NM_172364.4:c.2470+12C>T	NP_758952.4:n.2470+12C>T
ENST00000280663.12:n.2663+12C>T
ENST00000382722.9:c.2470+12C>T	ENSP00000372169.4:n.2470+12C>T
ENST00000444595.6:c.*716+12C>T	ENSP00000403371.2:n.*716+12C>T
ENST00000537784.5:c.311+12C>T
ENST00000585708.5:c.2278+12C>T	ENSP00000467697.1:n.2278+12C>T
ENST00000585732.1:c.2053+12C>T	ENSP00000468080.1:n.2053+12C>T
ENST00000586184.5:c.2470+12C>T	ENSP00000465060.1:n.2470+12C>T
ENST00000587995.5:c.2395+12C>T	ENSP00000465372.1:n.2395+12C>T
ENST00000588077.5:c.2278+12C>T	ENSP00000468530.1:n.2278+12C>T
XM_011521041.1:c.2407+12C>T	XP_011519343.1:n.2407+12C>T
XM_011521041.2:c.2407+12C>T	XP_011519343.1:n.2407+12C>T