Canonical Allele Identifier: CA516377324

Gene: CACNA1F

Linked Data

• COSMIC: COSM5455894
• MyVariant Identifiers: chrX:g.49072934C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3144G>A MANE Select	ENSP00000321618.6:p.Glu1048=
ENST00000323022.9:c.3144G>A	ENSP00000321618.5:p.Glu1048=
ENST00000376251.5:c.2982G>A	ENSP00000365427.1:p.Glu994=
ENST00000376265.2:c.3177G>A	ENSP00000365441.2:p.Glu1059=
NM_001256789.2:c.3144G>A	NP_001243718.1:p.Glu1048=
NM_001256790.2:c.2982G>A	NP_001243719.1:p.Glu994=
NM_005183.3:c.3177G>A	NP_005174.2:p.Glu1059=
XM_011543983.1:c.2982G>A	XP_011542285.1:p.Glu994=
XM_011543983.2:c.2982G>A	XP_011542285.1:p.Glu994=
XM_017029836.1:c.411G>A	XP_016885325.1:p.Glu137=
NM_001256789.3:c.3144G>A MANE Select	NP_001243718.1:p.Glu1048=
NM_001256790.3:c.2982G>A	NP_001243719.1:p.Glu994=
NM_005183.4:c.3177G>A	NP_005174.2:p.Glu1059=