Canonical Allele Identifier: CA412964139

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 1999701
• ClinVar RCV Id: RCV002797202
• gnomAD v4: X-49216515-C-A
• MyVariant Identifiers: chrX:g.49072975C>A (hg19) ; chrX:g.49216515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216515C>A , CM000685.2:g.49216515C>A	GRCh38
NC_000023.10:g.49072975C>A , CM000685.1:g.49072975C>A	GRCh37
NC_000023.9:g.48959919C>A	NCBI36
NG_009095.2:g.21852G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3103G>T MANE Select	ENSP00000321618.6:p.Val1035Leu
ENST00000323022.9:c.3103G>T	ENSP00000321618.5:p.Val1035Leu
ENST00000376251.5:c.2941G>T	ENSP00000365427.1:p.Val981Leu
ENST00000376265.2:c.3136G>T	ENSP00000365441.2:p.Val1046Leu
NM_001256789.2:c.3103G>T	NP_001243718.1:p.Val1035Leu
NM_001256790.2:c.2941G>T	NP_001243719.1:p.Val981Leu
NM_005183.3:c.3136G>T	NP_005174.2:p.Val1046Leu
XM_011543983.1:c.2941G>T	XP_011542285.1:p.Val981Leu
XM_011543983.2:c.2941G>T	XP_011542285.1:p.Val981Leu
XM_017029836.1:c.370G>T	XP_016885325.1:p.Val124Leu
NM_001256789.3:c.3103G>T MANE Select	NP_001243718.1:p.Val1035Leu
NM_001256790.3:c.2941G>T	NP_001243719.1:p.Val981Leu
NM_005183.4:c.3136G>T	NP_005174.2:p.Val1046Leu