Canonical Allele Identifier: CA516377401

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 1634383
• ClinVar RCV Id: RCV002142846
• dbSNP Id: rs2065734076
• gnomAD v3: X-49217904-G-A
• gnomAD v4: X-49217904-G-A
• MyVariant Identifiers: chrX:g.49074363G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217904G>A , CM000685.2:g.49217904G>A	GRCh38
NC_000023.10:g.49074363G>A , CM000685.1:g.49074363G>A	GRCh37
NC_000023.9:g.48961307G>A	NCBI36
NG_009095.2:g.20463C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3030C>T MANE Select	ENSP00000321618.6:p.Leu1010=
ENST00000323022.9:c.3030C>T	ENSP00000321618.5:p.Leu1010=
ENST00000376251.5:c.2868C>T	ENSP00000365427.1:p.Leu956=
ENST00000376265.2:c.3063C>T	ENSP00000365441.2:p.Leu1021=
NM_001256789.2:c.3030C>T	NP_001243718.1:p.Leu1010=
NM_001256790.2:c.2868C>T	NP_001243719.1:p.Leu956=
NM_005183.3:c.3063C>T	NP_005174.2:p.Leu1021=
XM_011543983.1:c.2868C>T	XP_011542285.1:p.Leu956=
XM_011543983.2:c.2868C>T	XP_011542285.1:p.Leu956=
XM_017029836.1:c.297C>T	XP_016885325.1:p.Leu99=
NM_001256789.3:c.3030C>T MANE Select	NP_001243718.1:p.Leu1010=
NM_001256790.3:c.2868C>T	NP_001243719.1:p.Leu956=
NM_005183.4:c.3063C>T	NP_005174.2:p.Leu1021=