Canonical Allele Identifier: CA603038570

Gene: CACNA2D4

Linked Data

• dbSNP Id: rs1312735034
• gnomAD v2: 12-2027794-C-G
• gnomAD v4: 12-1918628-C-G
• MyVariant Identifiers: chr12:g.2027794C>G (hg19) ; chr12:g.1918628C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1918628C>G , CM000674.2:g.1918628C>G	GRCh38
NC_000012.11:g.2027794C>G , CM000674.1:g.2027794C>G	GRCh37
NC_000012.10:g.1898055C>G	NCBI36
NG_012663.1:g.5077G>C
NG_012663.2:g.5077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382722.10:c.-155G>C MANE Select	ENSP00000372169.4:n.-155G>C
ENST00000280663.12:n.39G>C
ENST00000382722.9:c.-155G>C	ENSP00000372169.4:n.-155G>C
ENST00000444595.6:c.-155G>C	ENSP00000403371.2:n.-155G>C
NM_172364.4:c.-155G>C	NP_758952.4:n.-155G>C
XM_011521041.1:c.-155G>C	XP_011519343.1:n.-155G>C
XR_931529.1:n.2238G>C
XR_931530.1:n.2238G>C
XR_931531.1:n.2238G>C
XM_011521041.2:c.-155G>C	XP_011519343.1:n.-155G>C
XR_002957441.1:n.1849+599C>G
NM_172364.5:c.-155G>C MANE Select	NP_758952.4:n.-155G>C