Canonical Allele Identifier: CA16043594
Gene: CACNA1F HGNC NCBI

Linked Data

ClinVar Variation Id: 374004
ClinVar RCV Id: RCV000415143 RCV001199353
dbSNP Id: rs1057518829
MyVariant Identifiers: chrX:g.49086805T>A (hg19) chrX:g.49230343T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49230343T>A , CM000685.2:g.49230343T>A GRCh38
NC_000023.10:g.49086805T>A , CM000685.1:g.49086805T>A GRCh37
NC_000023.9:g.48973749T>A NCBI36
NG_009095.2:g.8024A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000323022.10:c.694A>T MANE Select ENSP00000321618.6:p.Lys232Ter
ENST00000323022.9:c.694A>T ENSP00000321618.5:p.Lys232Ter
ENST00000376251.5:c.499A>T ENSP00000365427.1:p.Lys167Ter
ENST00000376265.2:c.694A>T ENSP00000365441.2:p.Lys232Ter
NM_001256789.2:c.694A>T NP_001243718.1:p.Lys232Ter
NM_001256790.2:c.499A>T NP_001243719.1:p.Lys167Ter
NM_005183.3:c.694A>T NP_005174.2:p.Lys232Ter
XM_011543983.1:c.499A>T XP_011542285.1:p.Lys167Ter
XM_011543983.2:c.499A>T XP_011542285.1:p.Lys167Ter
NM_001256789.3:c.694A>T MANE Select NP_001243718.1:p.Lys232Ter
NM_001256790.3:c.499A>T NP_001243719.1:p.Lys167Ter
NM_005183.4:c.694A>T NP_005174.2:p.Lys232Ter
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