Canonical Allele Identifier: CA10410564
Gene: CACNA1F HGNC NCBI

Linked Data

ClinVar Variation Id: 560432
ClinVar RCV Id: RCV000678530
dbSNP Id: rs782473510
gnomAD v2: X-49074425-C-T
gnomAD v3: X-49217966-C-T
gnomAD v4: X-49217966-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49217966C>T , CM000685.2:g.49217966C>T GRCh38
NC_000023.10:g.49074425C>T , CM000685.1:g.49074425C>T GRCh37
NC_000023.9:g.48961369C>T NCBI36
NG_009095.2:g.20401G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2968G>A MANE Select ENSP00000321618.6:p.Gly990Arg
ENST00000323022.9:c.2968G>A ENSP00000321618.5:p.Gly990Arg
ENST00000376251.5:c.2806G>A ENSP00000365427.1:p.Gly936Arg
ENST00000376265.2:c.3001G>A ENSP00000365441.2:p.Gly1001Arg
NM_001256789.2:c.2968G>A NP_001243718.1:p.Gly990Arg
NM_001256790.2:c.2806G>A NP_001243719.1:p.Gly936Arg
NM_005183.3:c.3001G>A NP_005174.2:p.Gly1001Arg
XM_011543983.1:c.2806G>A XP_011542285.1:p.Gly936Arg
XM_011543983.2:c.2806G>A XP_011542285.1:p.Gly936Arg
XM_017029836.1:c.235G>A XP_016885325.1:p.Gly79Arg
NM_001256789.3:c.2968G>A MANE Select NP_001243718.1:p.Gly990Arg
NM_001256790.3:c.2806G>A NP_001243719.1:p.Gly936Arg
NM_005183.4:c.3001G>A NP_005174.2:p.Gly1001Arg