Canonical Allele Identifier: CA3196211177
Community Standard Title: NM_172364.5(CACNA2D4):c.1940+146A=
Gene: CACNA2D4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.1859999T= , CM000674.2:g.1859999T= GRCh38
NC_000012.11:g.1969165T= , CM000674.1:g.1969165T= GRCh37
NC_000012.10:g.1839426T= NCBI36
NG_012663.1:g.63706A=
NG_012663.2:g.63706A=

Transcript Alleles

HGVS Amino-acid Change
NM_172364.5:c.1940+146A= MANE Select NP_758952.4:n.1940+146A=
ENST00000382722.10:c.1940+146A= MANE Select ENSP00000372169.4:n.1940+146A=
NM_172364.4:c.1940+146A= NP_758952.4:n.1940+146A=
ENST00000280663.12:n.2133+146A=
ENST00000382722.9:c.1940+146A= ENSP00000372169.4:n.1940+146A=
ENST00000444595.6:c.*186+146A= ENSP00000403371.2:n.*186+146A=
ENST00000539048.2:n.86+146A=
ENST00000585708.5:c.1748+146A= ENSP00000467697.1:n.1748+146A=
ENST00000585732.1:c.1523+146A= ENSP00000468080.1:n.1523+146A=
ENST00000586184.5:c.1940+146A= ENSP00000465060.1:n.1940+146A=
ENST00000587995.5:c.1865+146A= ENSP00000465372.1:n.1865+146A=
ENST00000588077.5:c.1748+146A= ENSP00000468530.1:n.1748+146A=
XM_011521041.1:c.1877+146A= XP_011519343.1:n.1877+146A=
XM_011521041.2:c.1877+146A= XP_011519343.1:n.1877+146A=