Canonical Allele Identifier: CA10410520

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 1951580
• ClinVar RCV Id: RCV002695058
• dbSNP Id: rs5906755
• ExAC: X:49072932 C / T
• gnomAD v2: X-49072932-C-T
• gnomAD v4: X-49216472-C-T
• COSMIC: COSM1468342
• MyVariant Identifiers: chrX:g.49072932C>T (hg19) ; chrX:g.49216472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216472C>T , CM000685.2:g.49216472C>T	GRCh38
NC_000023.10:g.49072932C>T , CM000685.1:g.49072932C>T	GRCh37
NC_000023.9:g.48959876C>T	NCBI36
NG_009095.2:g.21895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3146G>A MANE Select	ENSP00000321618.6:p.Arg1049Gln
ENST00000323022.9:c.3146G>A	ENSP00000321618.5:p.Arg1049Gln
ENST00000376251.5:c.2984G>A	ENSP00000365427.1:p.Arg995Gln
ENST00000376265.2:c.3179G>A	ENSP00000365441.2:p.Arg1060Gln
NM_001256789.2:c.3146G>A	NP_001243718.1:p.Arg1049Gln
NM_001256790.2:c.2984G>A	NP_001243719.1:p.Arg995Gln
NM_005183.3:c.3179G>A	NP_005174.2:p.Arg1060Gln
XM_011543983.1:c.2984G>A	XP_011542285.1:p.Arg995Gln
XM_011543983.2:c.2984G>A	XP_011542285.1:p.Arg995Gln
XM_017029836.1:c.413G>A	XP_016885325.1:p.Arg138Gln
NM_001256789.3:c.3146G>A MANE Select	NP_001243718.1:p.Arg1049Gln
NM_001256790.3:c.2984G>A	NP_001243719.1:p.Arg995Gln
NM_005183.4:c.3179G>A	NP_005174.2:p.Arg1060Gln