Canonical Allele Identifier: CA2428540239

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217985A= , CM000685.2:g.49217985A=	GRCh38
NC_000023.10:g.49074444A= , CM000685.1:g.49074444A=	GRCh37
NC_000023.9:g.48961388A=	NCBI36
NG_009095.2:g.20382T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2949T= MANE Select	ENSP00000321618.6:p.Phe983=
ENST00000323022.9:c.2949T=	ENSP00000321618.5:p.Phe983=
ENST00000376251.5:c.2787T=	ENSP00000365427.1:p.Phe929=
ENST00000376265.2:c.2982T=	ENSP00000365441.2:p.Phe994=
NM_001256789.2:c.2949T=	NP_001243718.1:p.Phe983=
NM_001256790.2:c.2787T=	NP_001243719.1:p.Phe929=
NM_005183.3:c.2982T=	NP_005174.2:p.Phe994=
XM_011543983.1:c.2787T=	XP_011542285.1:p.Phe929=
XM_011543983.2:c.2787T=	XP_011542285.1:p.Phe929=
XM_017029836.1:c.216T=	XP_016885325.1:p.Phe72=
NM_001256789.3:c.2949T= MANE Select	NP_001243718.1:p.Phe983=
NM_001256790.3:c.2787T=	NP_001243719.1:p.Phe929=
NM_005183.4:c.2982T=	NP_005174.2:p.Phe994=