Canonical Allele Identifier: CA516378342

Gene: CACNA1F

Linked Data

• COSMIC: COSM4478964
• MyVariant Identifiers: chrX:g.49079021G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49222562G>A , CM000685.2:g.49222562G>A	GRCh38
NC_000023.10:g.49079021G>A , CM000685.1:g.49079021G>A	GRCh37
NC_000023.9:g.48965965G>A	NCBI36
NG_009095.2:g.15805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2248C>T MANE Select	ENSP00000321618.6:p.Leu750=
ENST00000323022.9:c.2248C>T	ENSP00000321618.5:p.Leu750=
ENST00000376251.5:c.2086C>T	ENSP00000365427.1:p.Leu696=
ENST00000376265.2:c.2281C>T	ENSP00000365441.2:p.Leu761=
ENST00000480889.1:n.378C>T
NM_001256789.2:c.2248C>T	NP_001243718.1:p.Leu750=
NM_001256790.2:c.2086C>T	NP_001243719.1:p.Leu696=
NM_005183.3:c.2281C>T	NP_005174.2:p.Leu761=
XM_011543983.1:c.2086C>T	XP_011542285.1:p.Leu696=
XM_011543983.2:c.2086C>T	XP_011542285.1:p.Leu696=
NM_001256789.3:c.2248C>T MANE Select	NP_001243718.1:p.Leu750=
NM_001256790.3:c.2086C>T	NP_001243719.1:p.Leu696=
NM_005183.4:c.2281C>T	NP_005174.2:p.Leu761=