Canonical Allele Identifier: CA179826

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 166779
• ClinVar RCV Id: RCV000152911 ; RCV001510625
• dbSNP Id: rs112450928
• ExAC: X:49076224 T / TTCC
• gnomAD v2: X-49076224-T-TTCC
• gnomAD v3: X-49219765-T-TTCC
• gnomAD v4: X-49219765-T-TTCC
• COSMIC: COSM1122453
• MyVariant Identifiers: chrX:g.49076225_49076227dup (hg19) ; chrX:g.49076225_49076227dupTCC (hg19) ; chrX:g.49076227_49076228insTCC (hg19) ; chrX:g.49076224_49076225insTCC (hg19) ; chrX:g.49219766_49219768dupTCC (hg38) ; chrX:g.49219768_49219769insTCC (hg38) ; chrX:g.49219765_49219766insTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49219784_49219786dup , CM000685.2:g.49219784_49219786dup	GRCh38
NC_000023.10:g.49076243_49076245dup , CM000685.1:g.49076243_49076245dup	GRCh37
NC_000023.9:g.48963187_48963189dup	NCBI36
NG_009095.2:g.18599_18601dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2409_2411dup MANE Select	ENSP00000321618.6:p.Glu804_Glu805insGlu
ENST00000323022.9:c.2409_2411dup	ENSP00000321618.5:p.Glu804_Glu805insGlu
ENST00000376251.5:c.2247_2249dup	ENSP00000365427.1:p.Glu750_Glu751insGlu
ENST00000376265.2:c.2442_2444dup	ENSP00000365441.2:p.Glu815_Glu816insGlu
NM_001256789.2:c.2409_2411dup	NP_001243718.1:p.Glu804_Glu805insGlu
NM_001256790.2:c.2247_2249dup	NP_001243719.1:p.Glu750_Glu751insGlu
NM_005183.3:c.2442_2444dup	NP_005174.2:p.Glu815_Glu816insGlu
XM_011543983.1:c.2247_2249dup	XP_011542285.1:p.Glu750_Glu751insGlu
XM_011543983.2:c.2247_2249dup	XP_011542285.1:p.Glu750_Glu751insGlu
NM_001256789.3:c.2409_2411dup MANE Select	NP_001243718.1:p.Glu804_Glu805insGlu
NM_001256790.3:c.2247_2249dup	NP_001243719.1:p.Glu750_Glu751insGlu
NM_005183.4:c.2442_2444dup	NP_005174.2:p.Glu815_Glu816insGlu