Canonical Allele Identifier: CA10636971
Gene: CACNA2D4 HGNC NCBI

Linked Data

ClinVar Variation Id: 307878
ClinVar RCV Id: RCV000390784
dbSNP Id: rs749175092
gnomAD v3: 12-1918624-C-A
gnomAD v4: 12-1918624-C-A
MyVariant Identifiers: chr12:g.2027790C>A (hg19) chr12:g.1918624C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.1918624C>A , CM000674.2:g.1918624C>A GRCh38
NC_000012.11:g.2027790C>A , CM000674.1:g.2027790C>A GRCh37
NC_000012.10:g.1898051C>A NCBI36
NG_012663.1:g.5081G>T
NG_012663.2:g.5081G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382722.10:c.-151G>T MANE Select ENSP00000372169.4:n.-151G>T
ENST00000280663.12:n.43G>T
ENST00000382722.9:c.-151G>T ENSP00000372169.4:n.-151G>T
ENST00000444595.6:c.-151G>T ENSP00000403371.2:n.-151G>T
NM_172364.4:c.-151G>T NP_758952.4:n.-151G>T
XM_011521041.1:c.-151G>T XP_011519343.1:n.-151G>T
XR_931529.1:n.2242G>T
XR_931530.1:n.2242G>T
XR_931531.1:n.2242G>T
XM_011521041.2:c.-151G>T XP_011519343.1:n.-151G>T
XR_002957441.1:n.1849+595C>A
NM_172364.5:c.-151G>T MANE Select NP_758952.4:n.-151G>T
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