Canonical Allele Identifier: CA412964508

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 954449
• ClinVar RCV Id: RCV001226902
• dbSNP Id: rs2065735355
• MyVariant Identifiers: chrX:g.49074444A>C (hg19) ; chrX:g.49217985A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217985A>C , CM000685.2:g.49217985A>C	GRCh38
NC_000023.10:g.49074444A>C , CM000685.1:g.49074444A>C	GRCh37
NC_000023.9:g.48961388A>C	NCBI36
NG_009095.2:g.20382T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2949T>G MANE Select	ENSP00000321618.6:p.Phe983Leu
ENST00000323022.9:c.2949T>G	ENSP00000321618.5:p.Phe983Leu
ENST00000376251.5:c.2787T>G	ENSP00000365427.1:p.Phe929Leu
ENST00000376265.2:c.2982T>G	ENSP00000365441.2:p.Phe994Leu
NM_001256789.2:c.2949T>G	NP_001243718.1:p.Phe983Leu
NM_001256790.2:c.2787T>G	NP_001243719.1:p.Phe929Leu
NM_005183.3:c.2982T>G	NP_005174.2:p.Phe994Leu
XM_011543983.1:c.2787T>G	XP_011542285.1:p.Phe929Leu
XM_011543983.2:c.2787T>G	XP_011542285.1:p.Phe929Leu
XM_017029836.1:c.216T>G	XP_016885325.1:p.Phe72Leu
NM_001256789.3:c.2949T>G MANE Select	NP_001243718.1:p.Phe983Leu
NM_001256790.3:c.2787T>G	NP_001243719.1:p.Phe929Leu
NM_005183.4:c.2982T>G	NP_005174.2:p.Phe994Leu