Canonical Allele Identifier: CA10632353
Gene: CACNA2D4 HGNC NCBI

Linked Data

ClinVar Variation Id: 307879
ClinVar RCV Id: RCV000310681
dbSNP Id: rs374494829
gnomAD v2: 12-2027813-G-A
gnomAD v3: 12-1918647-G-A
gnomAD v4: 12-1918647-G-A
MyVariant Identifiers: chr12:g.2027813G>A (hg19) chr12:g.1918647G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.1918647G>A , CM000674.2:g.1918647G>A GRCh38
NC_000012.11:g.2027813G>A , CM000674.1:g.2027813G>A GRCh37
NC_000012.10:g.1898074G>A NCBI36
NG_012663.1:g.5058C>T
NG_012663.2:g.5058C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382722.10:c.-174C>T MANE Select ENSP00000372169.4:n.-174C>T
ENST00000280663.12:n.20C>T
ENST00000382722.9:c.-174C>T ENSP00000372169.4:n.-174C>T
NM_172364.4:c.-174C>T NP_758952.4:n.-174C>T
XM_011521041.1:c.-174C>T XP_011519343.1:n.-174C>T
XR_931529.1:n.2219C>T
XR_931530.1:n.2219C>T
XR_931531.1:n.2219C>T
XM_011521041.2:c.-174C>T XP_011519343.1:n.-174C>T
XR_002957441.1:n.1849+618G>A
NM_172364.5:c.-174C>T MANE Select NP_758952.4:n.-174C>T
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