Canonical Allele Identifier: CA412960741

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49210328G>C , CM000685.2:g.49210328G>C	GRCh38
NC_000023.10:g.49066788G>C , CM000685.1:g.49066788G>C	GRCh37
NC_000023.9:g.48953732G>C	NCBI36
NG_009095.2:g.28039C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.4561C>G MANE Select	NP_001243718.1:p.Arg1521Gly
ENST00000323022.10:c.4561C>G MANE Select	ENSP00000321618.6:p.Arg1521Gly
NM_001256789.2:c.4561C>G	NP_001243718.1:p.Arg1521Gly
NM_001256790.2:c.4399C>G	NP_001243719.1:p.Arg1467Gly
NM_001256790.3:c.4399C>G	NP_001243719.1:p.Arg1467Gly
NM_005183.3:c.4594C>G	NP_005174.2:p.Arg1532Gly
NM_005183.4:c.4594C>G	NP_005174.2:p.Arg1532Gly
ENST00000323022.9:c.4561C>G	ENSP00000321618.5:p.Arg1521Gly
ENST00000376251.5:c.4399C>G	ENSP00000365427.1:p.Arg1467Gly
ENST00000376265.2:c.4594C>G	ENSP00000365441.2:p.Arg1532Gly
ENST00000481035.1:n.486C>G
XM_011543983.1:c.4378C>G	XP_011542285.1:p.Arg1460Gly
XM_011543983.2:c.4378C>G	XP_011542285.1:p.Arg1460Gly
XM_017029836.1:c.1807C>G	XP_016885325.1:p.Arg603Gly