Canonical Allele Identifier: CA210170

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49226025C>T , CM000685.2:g.49226025C>T	GRCh38
NC_000023.10:g.49082487C>T , CM000685.1:g.49082487C>T	GRCh37
NC_000023.9:g.48969431C>T	NCBI36
NG_009095.2:g.12342G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.1535G>A MANE Select	NP_001243718.1:p.Arg512His
ENST00000323022.10:c.1535G>A MANE Select	ENSP00000321618.6:p.Arg512His
NM_001256789.2:c.1535G>A	NP_001243718.1:p.Arg512His
NM_001256790.2:c.1373G>A	NP_001243719.1:p.Arg458His
NM_001256790.3:c.1373G>A	NP_001243719.1:p.Arg458His
NM_005183.3:c.1568G>A	NP_005174.2:p.Arg523His
NM_005183.4:c.1568G>A	NP_005174.2:p.Arg523His
ENST00000323022.9:c.1535G>A	ENSP00000321618.5:p.Arg512His
ENST00000376251.5:c.1373G>A	ENSP00000365427.1:p.Arg458His
ENST00000376265.2:c.1568G>A	ENSP00000365441.2:p.Arg523His
XM_011543983.1:c.1373G>A	XP_011542285.1:p.Arg458His
XM_011543983.2:c.1373G>A	XP_011542285.1:p.Arg458His