Canonical Allele Identifier: CA121617
Gene: CACNA1F HGNC NCBI

Linked Data

ClinVar Variation Id: 11619
ClinVar RCV Id: RCV000012385 RCV002512984
dbSNP Id: rs122456136
MyVariant Identifiers: chrX:g.49079035A>G (hg19) chrX:g.49222576A>G (hg38)
PubMed: PMID:15897456
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49222576A>G , CM000685.2:g.49222576A>G GRCh38
NC_000023.10:g.49079035A>G , CM000685.1:g.49079035A>G GRCh37
NC_000023.9:g.48965979A>G NCBI36
NG_009095.2:g.15791T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000323022.10:c.2234T>C MANE Select ENSP00000321618.6:p.Ile745Thr
ENST00000323022.9:c.2234T>C ENSP00000321618.5:p.Ile745Thr
ENST00000376251.5:c.2072T>C ENSP00000365427.1:p.Ile691Thr
ENST00000376265.2:c.2267T>C ENSP00000365441.2:p.Ile756Thr
ENST00000480889.1:n.364T>C
NM_001256789.2:c.2234T>C NP_001243718.1:p.Ile745Thr
NM_001256790.2:c.2072T>C NP_001243719.1:p.Ile691Thr
NM_005183.3:c.2267T>C NP_005174.2:p.Ile756Thr
XM_011543983.1:c.2072T>C XP_011542285.1:p.Ile691Thr
XM_011543983.2:c.2072T>C XP_011542285.1:p.Ile691Thr
NM_001256789.3:c.2234T>C MANE Select NP_001243718.1:p.Ile745Thr
NM_001256790.3:c.2072T>C NP_001243719.1:p.Ile691Thr
NM_005183.4:c.2267T>C NP_005174.2:p.Ile756Thr
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