Canonical Allele Identifier: CA412964059

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1569528105
• gnomAD v4: X-49216474-C-A
• MyVariant Identifiers: chrX:g.49072934C>A (hg19) ; chrX:g.49216474C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216474C>A , CM000685.2:g.49216474C>A	GRCh38
NC_000023.10:g.49072934C>A , CM000685.1:g.49072934C>A	GRCh37
NC_000023.9:g.48959878C>A	NCBI36
NG_009095.2:g.21893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3144G>T MANE Select	ENSP00000321618.6:p.Glu1048Asp
ENST00000323022.9:c.3144G>T	ENSP00000321618.5:p.Glu1048Asp
ENST00000376251.5:c.2982G>T	ENSP00000365427.1:p.Glu994Asp
ENST00000376265.2:c.3177G>T	ENSP00000365441.2:p.Glu1059Asp
NM_001256789.2:c.3144G>T	NP_001243718.1:p.Glu1048Asp
NM_001256790.2:c.2982G>T	NP_001243719.1:p.Glu994Asp
NM_005183.3:c.3177G>T	NP_005174.2:p.Glu1059Asp
XM_011543983.1:c.2982G>T	XP_011542285.1:p.Glu994Asp
XM_011543983.2:c.2982G>T	XP_011542285.1:p.Glu994Asp
XM_017029836.1:c.411G>T	XP_016885325.1:p.Glu137Asp
NM_001256789.3:c.3144G>T MANE Select	NP_001243718.1:p.Glu1048Asp
NM_001256790.3:c.2982G>T	NP_001243719.1:p.Glu994Asp
NM_005183.4:c.3177G>T	NP_005174.2:p.Glu1059Asp