Canonical Allele Identifier: CA16608507

Gene: CACNA1F

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)

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