Canonical Allele Identifier: CA412963952

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 3136345
• ClinVar RCV Id: RCV004432210
• dbSNP Id: rs1392622274
• gnomAD v2: X-49072888-C-A
• gnomAD v3: X-49216428-C-A
• gnomAD v4: X-49216428-C-A
• MyVariant Identifiers: chrX:g.49072888C>A (hg19) ; chrX:g.49216428C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216428C>A , CM000685.2:g.49216428C>A	GRCh38
NC_000023.10:g.49072888C>A , CM000685.1:g.49072888C>A	GRCh37
NC_000023.9:g.48959832C>A	NCBI36
NG_009095.2:g.21939G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3190G>T MANE Select	ENSP00000321618.6:p.Ala1064Ser
ENST00000323022.9:c.3190G>T	ENSP00000321618.5:p.Ala1064Ser
ENST00000376251.5:c.3028G>T	ENSP00000365427.1:p.Ala1010Ser
ENST00000376265.2:c.3223G>T	ENSP00000365441.2:p.Ala1075Ser
NM_001256789.2:c.3190G>T	NP_001243718.1:p.Ala1064Ser
NM_001256790.2:c.3028G>T	NP_001243719.1:p.Ala1010Ser
NM_005183.3:c.3223G>T	NP_005174.2:p.Ala1075Ser
XM_011543983.1:c.3028G>T	XP_011542285.1:p.Ala1010Ser
XM_011543983.2:c.3028G>T	XP_011542285.1:p.Ala1010Ser
XM_017029836.1:c.457G>T	XP_016885325.1:p.Ala153Ser
NM_001256789.3:c.3190G>T MANE Select	NP_001243718.1:p.Ala1064Ser
NM_001256790.3:c.3028G>T	NP_001243719.1:p.Ala1010Ser
NM_005183.4:c.3223G>T	NP_005174.2:p.Ala1075Ser