Canonical Allele Identifier: CA329141443

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 1129638
• ClinVar RCV Id: RCV001462853
• dbSNP Id: rs926774753
• MyVariant Identifiers: chrX:g.49075804G>T (hg19) ; chrX:g.49219345G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49219345G>T , CM000685.2:g.49219345G>T	GRCh38
NC_000023.10:g.49075804G>T , CM000685.1:g.49075804G>T	GRCh37
NC_000023.9:g.48962748G>T	NCBI36
NG_009095.2:g.19022C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2649C>A MANE Select	ENSP00000321618.6:p.Ile883=
ENST00000323022.9:c.2649C>A	ENSP00000321618.5:p.Ile883=
ENST00000376251.5:c.2487C>A	ENSP00000365427.1:p.Ile829=
ENST00000376265.2:c.2682C>A	ENSP00000365441.2:p.Ile894=
NM_001256789.2:c.2649C>A	NP_001243718.1:p.Ile883=
NM_001256790.2:c.2487C>A	NP_001243719.1:p.Ile829=
NM_005183.3:c.2682C>A	NP_005174.2:p.Ile894=
XM_011543983.1:c.2487C>A	XP_011542285.1:p.Ile829=
XM_011543983.2:c.2487C>A	XP_011542285.1:p.Ile829=
XM_017029836.1:c.-85C>A	XP_016885325.1:n.-85C>A
NM_001256789.3:c.2649C>A MANE Select	NP_001243718.1:p.Ile883=
NM_001256790.3:c.2487C>A	NP_001243719.1:p.Ile829=
NM_005183.4:c.2682C>A	NP_005174.2:p.Ile894=