Canonical Allele Identifier: CA412964472

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 1422605
• ClinVar RCV Id: RCV001945656
• dbSNP Id: rs782473510
• MyVariant Identifiers: chrX:g.49074425C>G (hg19) ; chrX:g.49217966C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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