Canonical Allele Identifier: CA412927194

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49231708C>T , CM000685.2:g.49231708C>T	GRCh38
NC_000023.10:g.49088170C>T , CM000685.1:g.49088170C>T	GRCh37
NC_000023.9:g.48975114C>T	NCBI36
NG_009095.2:g.6659G>A
NG_021311.2:g.1244C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.245G>A MANE Select	NP_001243718.1:p.Arg82Gln
ENST00000323022.10:c.245G>A MANE Select	ENSP00000321618.6:p.Arg82Gln
NM_001256789.2:c.245G>A	NP_001243718.1:p.Arg82Gln
NM_001256790.2:c.66-16G>A	NP_001243719.1:n.66-16G>A
NM_001256790.3:c.66-16G>A	NP_001243719.1:n.66-16G>A
NM_005183.3:c.245G>A	NP_005174.2:p.Arg82Gln
NM_005183.4:c.245G>A	NP_005174.2:p.Arg82Gln
ENST00000323022.9:c.245G>A	ENSP00000321618.5:p.Arg82Gln
ENST00000376251.5:c.66-16G>A	ENSP00000365427.1:n.66-16G>A
ENST00000376265.2:c.245G>A	ENSP00000365441.2:p.Arg82Gln
XM_011543983.1:c.66-16G>A	XP_011542285.1:n.66-16G>A
XM_011543983.2:c.66-16G>A	XP_011542285.1:n.66-16G>A