Canonical Allele Identifier: CA16608507
Gene: CACNA1F HGNC NCBI

Linked Data

ClinVar Variation Id: 390810
ClinVar RCV Id: RCV000436235
dbSNP Id: rs1057523895
MyVariant Identifiers: chrX:g.49070364T>G (hg19) chrX:g.49213904T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49213904T>G , CM000685.2:g.49213904T>G GRCh38
NC_000023.10:g.49070364T>G , CM000685.1:g.49070364T>G GRCh37
NC_000023.9:g.48957308T>G NCBI36
NG_009095.2:g.24463A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000323022.10:c.3709-2A>C MANE Select ENSP00000321618.6:n.3709-2A>C
ENST00000323022.9:c.3709-2A>C ENSP00000321618.5:n.3709-2A>C
ENST00000376251.5:c.3547-2A>C ENSP00000365427.1:n.3547-2A>C
ENST00000376265.2:c.3742-2A>C ENSP00000365441.2:n.3742-2A>C
NM_001256789.2:c.3709-2A>C NP_001243718.1:n.3709-2A>C
NM_001256790.2:c.3547-2A>C NP_001243719.1:n.3547-2A>C
NM_005183.3:c.3742-2A>C NP_005174.2:n.3742-2A>C
XM_011543983.1:c.3547-2A>C XP_011542285.1:n.3547-2A>C
XM_011543983.2:c.3547-2A>C XP_011542285.1:n.3547-2A>C
XM_017029836.1:c.976-2A>C XP_016885325.1:n.976-2A>C
NM_001256789.3:c.3709-2A>C MANE Select NP_001243718.1:n.3709-2A>C
NM_001256790.3:c.3547-2A>C NP_001243719.1:n.3547-2A>C
NM_005183.4:c.3742-2A>C NP_005174.2:n.3742-2A>C
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