Canonical Allele Identifier: CA412963963

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 1048797
• ClinVar RCV Id: RCV001354052 ; RCV004036697
• dbSNP Id: rs2065716962
• gnomAD v3: X-49216434-G-A
• gnomAD v4: X-49216434-G-A
• MyVariant Identifiers: chrX:g.49072894G>A (hg19) ; chrX:g.49216434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216434G>A , CM000685.2:g.49216434G>A	GRCh38
NC_000023.10:g.49072894G>A , CM000685.1:g.49072894G>A	GRCh37
NC_000023.9:g.48959838G>A	NCBI36
NG_009095.2:g.21933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3184C>T MANE Select	ENSP00000321618.6:p.Leu1062Phe
ENST00000323022.9:c.3184C>T	ENSP00000321618.5:p.Leu1062Phe
ENST00000376251.5:c.3022C>T	ENSP00000365427.1:p.Leu1008Phe
ENST00000376265.2:c.3217C>T	ENSP00000365441.2:p.Leu1073Phe
NM_001256789.2:c.3184C>T	NP_001243718.1:p.Leu1062Phe
NM_001256790.2:c.3022C>T	NP_001243719.1:p.Leu1008Phe
NM_005183.3:c.3217C>T	NP_005174.2:p.Leu1073Phe
XM_011543983.1:c.3022C>T	XP_011542285.1:p.Leu1008Phe
XM_011543983.2:c.3022C>T	XP_011542285.1:p.Leu1008Phe
XM_017029836.1:c.451C>T	XP_016885325.1:p.Leu151Phe
NM_001256789.3:c.3184C>T MANE Select	NP_001243718.1:p.Leu1062Phe
NM_001256790.3:c.3022C>T	NP_001243719.1:p.Leu1008Phe
NM_005183.4:c.3217C>T	NP_005174.2:p.Leu1073Phe