Canonical Allele Identifier: CA883512858
Gene: CACNG8 HGNC NCBI

Linked Data

dbSNP Id: rs1388155799
gnomAD v3: 19-53977924-T-C
gnomAD v4: 19-53977924-T-C
MyVariant Identifiers: chr19:g.54481178T>C (hg19) chr19:g.53977924T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.53977924T>C , CM000681.2:g.53977924T>C GRCh38
NC_000019.9:g.54481178T>C , CM000681.1:g.54481178T>C GRCh37
NC_000019.8:g.59172990T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270458.4:c.284-222T>C MANE Select ENSP00000270458.3:n.284-222T>C
ENST00000270458.2:c.284-222T>C ENSP00000270458.2:n.284-222T>C
NM_031895.5:c.284-222T>C NP_114101.4:n.284-222T>C
NM_031895.6:c.284-222T>C MANE Select NP_114101.4:n.284-222T>C
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