Canonical Allele Identifier: CA412926143

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49230938T>C , CM000685.2:g.49230938T>C	GRCh38
NC_000023.10:g.49087400T>C , CM000685.1:g.49087400T>C	GRCh37
NC_000023.9:g.48974344T>C	NCBI36
NG_009095.2:g.7429A>G
NG_021311.2:g.474T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.433A>G MANE Select	NP_001243718.1:p.Lys145Glu
ENST00000323022.10:c.433A>G MANE Select	ENSP00000321618.6:p.Lys145Glu
NM_001256789.2:c.433A>G	NP_001243718.1:p.Lys145Glu
NM_001256790.2:c.238A>G	NP_001243719.1:p.Lys80Glu
NM_001256790.3:c.238A>G	NP_001243719.1:p.Lys80Glu
NM_005183.3:c.433A>G	NP_005174.2:p.Lys145Glu
NM_005183.4:c.433A>G	NP_005174.2:p.Lys145Glu
ENST00000323022.9:c.433A>G	ENSP00000321618.5:p.Lys145Glu
ENST00000376251.5:c.238A>G	ENSP00000365427.1:p.Lys80Glu
ENST00000376265.2:c.433A>G	ENSP00000365441.2:p.Lys145Glu
XM_011543983.1:c.238A>G	XP_011542285.1:p.Lys80Glu
XM_011543983.2:c.238A>G	XP_011542285.1:p.Lys80Glu