Canonical Allele Identifier: CA412960984

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49210621C>T , CM000685.2:g.49210621C>T	GRCh38
NC_000023.10:g.49067081C>T , CM000685.1:g.49067081C>T	GRCh37
NC_000023.9:g.48954025C>T	NCBI36
NG_009095.2:g.27746G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.4454G>A MANE Select	NP_001243718.1:p.Gly1485Glu
ENST00000323022.10:c.4454G>A MANE Select	ENSP00000321618.6:p.Gly1485Glu
NM_001256789.2:c.4454G>A	NP_001243718.1:p.Gly1485Glu
NM_001256790.2:c.4292G>A	NP_001243719.1:p.Gly1431Glu
NM_001256790.3:c.4292G>A	NP_001243719.1:p.Gly1431Glu
NM_005183.3:c.4487G>A	NP_005174.2:p.Gly1496Glu
NM_005183.4:c.4487G>A	NP_005174.2:p.Gly1496Glu
ENST00000323022.9:c.4454G>A	ENSP00000321618.5:p.Gly1485Glu
ENST00000376251.5:c.4292G>A	ENSP00000365427.1:p.Gly1431Glu
ENST00000376265.2:c.4487G>A	ENSP00000365441.2:p.Gly1496Glu
ENST00000481035.1:n.379G>A
XM_011543983.1:c.4271G>A	XP_011542285.1:p.Gly1424Glu
XM_011543983.2:c.4271G>A	XP_011542285.1:p.Gly1424Glu
XM_017029836.1:c.1700G>A	XP_016885325.1:p.Gly567Glu