Canonical Allele Identifier: CA329140754

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 954085
• ClinVar RCV Id: RCV001226477
• dbSNP Id: rs1013820404
• MyVariant Identifiers: chrX:g.49074377T>C (hg19) ; chrX:g.49217918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217918T>C , CM000685.2:g.49217918T>C	GRCh38
NC_000023.10:g.49074377T>C , CM000685.1:g.49074377T>C	GRCh37
NC_000023.9:g.48961321T>C	NCBI36
NG_009095.2:g.20449A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3016A>G MANE Select	ENSP00000321618.6:p.Ile1006Val
ENST00000323022.9:c.3016A>G	ENSP00000321618.5:p.Ile1006Val
ENST00000376251.5:c.2854A>G	ENSP00000365427.1:p.Ile952Val
ENST00000376265.2:c.3049A>G	ENSP00000365441.2:p.Ile1017Val
NM_001256789.2:c.3016A>G	NP_001243718.1:p.Ile1006Val
NM_001256790.2:c.2854A>G	NP_001243719.1:p.Ile952Val
NM_005183.3:c.3049A>G	NP_005174.2:p.Ile1017Val
XM_011543983.1:c.2854A>G	XP_011542285.1:p.Ile952Val
XM_011543983.2:c.2854A>G	XP_011542285.1:p.Ile952Val
XM_017029836.1:c.283A>G	XP_016885325.1:p.Ile95Val
NM_001256789.3:c.3016A>G MANE Select	NP_001243718.1:p.Ile1006Val
NM_001256790.3:c.2854A>G	NP_001243719.1:p.Ile952Val
NM_005183.4:c.3049A>G	NP_005174.2:p.Ile1017Val