Canonical Allele Identifier: CA329140802

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 1148320
• ClinVar RCV Id: RCV001488171
• dbSNP Id: rs374658179
• gnomAD v2: X-49074468-C-T
• gnomAD v3: X-49218009-C-T
• gnomAD v4: X-49218009-C-T
• MyVariant Identifiers: chrX:g.49074468C>T (hg19) ; chrX:g.49218009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218009C>T , CM000685.2:g.49218009C>T	GRCh38
NC_000023.10:g.49074468C>T , CM000685.1:g.49074468C>T	GRCh37
NC_000023.9:g.48961412C>T	NCBI36
NG_009095.2:g.20358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2929-4G>A MANE Select	ENSP00000321618.6:n.2929-4G>A
ENST00000323022.9:c.2929-4G>A	ENSP00000321618.5:n.2929-4G>A
ENST00000376251.5:c.2767-4G>A	ENSP00000365427.1:n.2767-4G>A
ENST00000376265.2:c.2962-4G>A	ENSP00000365441.2:n.2962-4G>A
NM_001256789.2:c.2929-4G>A	NP_001243718.1:n.2929-4G>A
NM_001256790.2:c.2767-4G>A	NP_001243719.1:n.2767-4G>A
NM_005183.3:c.2962-4G>A	NP_005174.2:n.2962-4G>A
XM_011543983.1:c.2767-4G>A	XP_011542285.1:n.2767-4G>A
XM_011543983.2:c.2767-4G>A	XP_011542285.1:n.2767-4G>A
XM_017029836.1:c.196-4G>A	XP_016885325.1:n.196-4G>A
NM_001256789.3:c.2929-4G>A MANE Select	NP_001243718.1:n.2929-4G>A
NM_001256790.3:c.2767-4G>A	NP_001243719.1:n.2767-4G>A
NM_005183.4:c.2962-4G>A	NP_005174.2:n.2962-4G>A