Canonical Allele Identifier: CA412964355

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 1074712
• ClinVar RCV Id: RCV001388117 ; RCV002272468
• dbSNP Id: rs1249437161
• gnomAD v3: X-49217915-C-T
• gnomAD v4: X-49217915-C-T
• MyVariant Identifiers: chrX:g.49074374C>T (hg19) ; chrX:g.49217915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217915C>T , CM000685.2:g.49217915C>T	GRCh38
NC_000023.10:g.49074374C>T , CM000685.1:g.49074374C>T	GRCh37
NC_000023.9:g.48961318C>T	NCBI36
NG_009095.2:g.20452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3019G>A MANE Select	ENSP00000321618.6:p.Gly1007Arg
ENST00000323022.9:c.3019G>A	ENSP00000321618.5:p.Gly1007Arg
ENST00000376251.5:c.2857G>A	ENSP00000365427.1:p.Gly953Arg
ENST00000376265.2:c.3052G>A	ENSP00000365441.2:p.Gly1018Arg
NM_001256789.2:c.3019G>A	NP_001243718.1:p.Gly1007Arg
NM_001256790.2:c.2857G>A	NP_001243719.1:p.Gly953Arg
NM_005183.3:c.3052G>A	NP_005174.2:p.Gly1018Arg
XM_011543983.1:c.2857G>A	XP_011542285.1:p.Gly953Arg
XM_011543983.2:c.2857G>A	XP_011542285.1:p.Gly953Arg
XM_017029836.1:c.286G>A	XP_016885325.1:p.Gly96Arg
NM_001256789.3:c.3019G>A MANE Select	NP_001243718.1:p.Gly1007Arg
NM_001256790.3:c.2857G>A	NP_001243719.1:p.Gly953Arg
NM_005183.4:c.3052G>A	NP_005174.2:p.Gly1018Arg