Canonical Allele Identifier: CA10640573
Gene: CACNA2D4 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.1792059C>T , CM000674.2:g.1792059C>T GRCh38
NC_000012.11:g.1901225C>T , CM000674.1:g.1901225C>T GRCh37
NC_000012.10:g.1771486C>T NCBI36
NG_012663.1:g.131646G>A
NG_012663.2:g.131646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382722.10:c.*1596G>A MANE Select ENSP00000372169.4:n.*1596G>A
ENST00000280663.12:n.5840G>A
ENST00000382722.9:c.*1596G>A ENSP00000372169.4:n.*1596G>A
ENST00000537784.5:c.2780G>A
NM_172364.4:c.*1596G>A NP_758952.4:n.*1596G>A
NM_172364.5:c.*1596G>A MANE Select NP_758952.4:n.*1596G>A