Canonical Allele Identifier: CA10654934
Gene: CACNA1F HGNC NCBI

Linked Data

ClinVar Variation Id: 369958
ClinVar RCV Id: RCV000408778
dbSNP Id: rs1057516199
MyVariant Identifiers: chrX:g.49074268T>C (hg19) chrX:g.49217809T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49217809T>C , CM000685.2:g.49217809T>C GRCh38
NC_000023.10:g.49074268T>C , CM000685.1:g.49074268T>C GRCh37
NC_000023.9:g.48961212T>C NCBI36
NG_009095.2:g.20558A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000323022.10:c.3037-2A>G MANE Select ENSP00000321618.6:n.3037-2A>G
ENST00000323022.9:c.3037-2A>G ENSP00000321618.5:n.3037-2A>G
ENST00000376251.5:c.2875-2A>G ENSP00000365427.1:n.2875-2A>G
ENST00000376265.2:c.3070-2A>G ENSP00000365441.2:n.3070-2A>G
NM_001256789.2:c.3037-2A>G NP_001243718.1:n.3037-2A>G
NM_001256790.2:c.2875-2A>G NP_001243719.1:n.2875-2A>G
NM_005183.3:c.3070-2A>G NP_005174.2:n.3070-2A>G
XM_011543983.1:c.2875-2A>G XP_011542285.1:n.2875-2A>G
XM_011543983.2:c.2875-2A>G XP_011542285.1:n.2875-2A>G
XM_017029836.1:c.304-2A>G XP_016885325.1:n.304-2A>G
NM_001256789.3:c.3037-2A>G MANE Select NP_001243718.1:n.3037-2A>G
NM_001256790.3:c.2875-2A>G NP_001243719.1:n.2875-2A>G
NM_005183.4:c.3070-2A>G NP_005174.2:n.3070-2A>G
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