Canonical Allele Identifier: CA6386870

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1856188C>T , CM000674.2:g.1856188C>T	GRCh38
NC_000012.11:g.1965354C>T , CM000674.1:g.1965354C>T	GRCh37
NC_000012.10:g.1835615C>T	NCBI36
NG_012663.1:g.67517G>A
NG_012663.2:g.67517G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.2050G>A MANE Select	NP_758952.4:p.Asp684Asn
ENST00000382722.10:c.2050G>A MANE Select	ENSP00000372169.4:p.Asp684Asn
NM_172364.4:c.2050G>A	NP_758952.4:p.Asp684Asn
ENST00000280663.12:n.2243G>A
ENST00000382722.9:c.2050G>A	ENSP00000372169.4:p.Asp684Asn
ENST00000444595.6:c.*296G>A	ENSP00000403371.2:n.*296G>A
ENST00000539048.2:n.196G>A
ENST00000585708.5:c.1858G>A	ENSP00000467697.1:p.Asp620Asn
ENST00000585732.1:c.1633G>A	ENSP00000468080.1:p.Asp545Asn
ENST00000586184.5:c.2050G>A	ENSP00000465060.1:p.Asp684Asn
ENST00000587995.5:c.1975G>A	ENSP00000465372.1:p.Asp659Asn
ENST00000588077.5:c.1858G>A	ENSP00000468530.1:p.Asp620Asn
XM_011521041.1:c.1987G>A	XP_011519343.1:p.Asp663Asn
XM_011521041.2:c.1987G>A	XP_011519343.1:p.Asp663Asn