Canonical Allele Identifier: CA412964407

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 2065204
• ClinVar RCV Id: RCV002958292
• MyVariant Identifiers: chrX:g.49074395G>A (hg19) ; chrX:g.49217936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217936G>A , CM000685.2:g.49217936G>A	GRCh38
NC_000023.10:g.49074395G>A , CM000685.1:g.49074395G>A	GRCh37
NC_000023.9:g.48961339G>A	NCBI36
NG_009095.2:g.20431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2998C>T MANE Select	ENSP00000321618.6:p.Gln1000Ter
ENST00000323022.9:c.2998C>T	ENSP00000321618.5:p.Gln1000Ter
ENST00000376251.5:c.2836C>T	ENSP00000365427.1:p.Gln946Ter
ENST00000376265.2:c.3031C>T	ENSP00000365441.2:p.Gln1011Ter
NM_001256789.2:c.2998C>T	NP_001243718.1:p.Gln1000Ter
NM_001256790.2:c.2836C>T	NP_001243719.1:p.Gln946Ter
NM_005183.3:c.3031C>T	NP_005174.2:p.Gln1011Ter
XM_011543983.1:c.2836C>T	XP_011542285.1:p.Gln946Ter
XM_011543983.2:c.2836C>T	XP_011542285.1:p.Gln946Ter
XM_017029836.1:c.265C>T	XP_016885325.1:p.Gln89Ter
NM_001256789.3:c.2998C>T MANE Select	NP_001243718.1:p.Gln1000Ter
NM_001256790.3:c.2836C>T	NP_001243719.1:p.Gln946Ter
NM_005183.4:c.3031C>T	NP_005174.2:p.Gln1011Ter