Canonical Allele Identifier: CA2428539737

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216474C= , CM000685.2:g.49216474C=	GRCh38
NC_000023.10:g.49072934C= , CM000685.1:g.49072934C=	GRCh37
NC_000023.9:g.48959878C=	NCBI36
NG_009095.2:g.21893G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3144G= MANE Select	ENSP00000321618.6:p.Glu1048=
ENST00000323022.9:c.3144G=	ENSP00000321618.5:p.Glu1048=
ENST00000376251.5:c.2982G=	ENSP00000365427.1:p.Glu994=
ENST00000376265.2:c.3177G=	ENSP00000365441.2:p.Glu1059=
NM_001256789.2:c.3144G=	NP_001243718.1:p.Glu1048=
NM_001256790.2:c.2982G=	NP_001243719.1:p.Glu994=
NM_005183.3:c.3177G=	NP_005174.2:p.Glu1059=
XM_011543983.1:c.2982G=	XP_011542285.1:p.Glu994=
XM_011543983.2:c.2982G=	XP_011542285.1:p.Glu994=
XM_017029836.1:c.411G=	XP_016885325.1:p.Glu137=
NM_001256789.3:c.3144G= MANE Select	NP_001243718.1:p.Glu1048=
NM_001256790.3:c.2982G=	NP_001243719.1:p.Glu994=
NM_005183.4:c.3177G=	NP_005174.2:p.Glu1059=