Canonical Allele Identifier: CA2579607625

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 2577504
• ClinVar RCV Id: RCV003324686

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217982del , CM000685.2:g.49217982del	GRCh38
NC_000023.10:g.49074441del , CM000685.1:g.49074441del	GRCh37
NC_000023.9:g.48961385del	NCBI36
NG_009095.2:g.20386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2953del MANE Select	ENSP00000321618.6:p.Ala985ProfsTer9
ENST00000323022.9:c.2953del	ENSP00000321618.5:p.Ala985ProfsTer9
ENST00000376251.5:c.2791del	ENSP00000365427.1:p.Ala931ProfsTer9
ENST00000376265.2:c.2986del	ENSP00000365441.2:p.Ala996ProfsTer9
NM_001256789.2:c.2953del	NP_001243718.1:p.Ala985ProfsTer9
NM_001256790.2:c.2791del	NP_001243719.1:p.Ala931ProfsTer9
NM_005183.3:c.2986del	NP_005174.2:p.Ala996ProfsTer9
XM_011543983.1:c.2791del	XP_011542285.1:p.Ala931ProfsTer9
XM_011543983.2:c.2791del	XP_011542285.1:p.Ala931ProfsTer9
XM_017029836.1:c.220del	XP_016885325.1:p.Ala74ProfsTer9
NM_001256789.3:c.2953del MANE Select	NP_001243718.1:p.Ala985ProfsTer9
NM_001256790.3:c.2791del	NP_001243719.1:p.Ala931ProfsTer9
NM_005183.4:c.2986del	NP_005174.2:p.Ala996ProfsTer9