Canonical Allele Identifier: CA16621427
Gene: CACNA1F HGNC NCBI

Linked Data

ClinVar Variation Id: 420802
ClinVar RCV Id: RCV000483436
dbSNP Id: rs1064794711

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49217914C>T , CM000685.2:g.49217914C>T GRCh38
NC_000023.10:g.49074373C>T , CM000685.1:g.49074373C>T GRCh37
NC_000023.9:g.48961317C>T NCBI36
NG_009095.2:g.20453G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323022.10:c.3020G>A MANE Select ENSP00000321618.6:p.Gly1007Glu
ENST00000323022.9:c.3020G>A ENSP00000321618.5:p.Gly1007Glu
ENST00000376251.5:c.2858G>A ENSP00000365427.1:p.Gly953Glu
ENST00000376265.2:c.3053G>A ENSP00000365441.2:p.Gly1018Glu
NM_001256789.2:c.3020G>A NP_001243718.1:p.Gly1007Glu
NM_001256790.2:c.2858G>A NP_001243719.1:p.Gly953Glu
NM_005183.3:c.3053G>A NP_005174.2:p.Gly1018Glu
XM_011543983.1:c.2858G>A XP_011542285.1:p.Gly953Glu
XM_011543983.2:c.2858G>A XP_011542285.1:p.Gly953Glu
XM_017029836.1:c.287G>A XP_016885325.1:p.Gly96Glu
NM_001256789.3:c.3020G>A MANE Select NP_001243718.1:p.Gly1007Glu
NM_001256790.3:c.2858G>A NP_001243719.1:p.Gly953Glu
NM_005183.4:c.3053G>A NP_005174.2:p.Gly1018Glu