Canonical Allele Identifier: CA2428540391
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218512C= , CM000685.2:g.49218512C= GRCh38
NC_000023.10:g.49074971C= , CM000685.1:g.49074971C= GRCh37
NC_000023.9:g.48961915C= NCBI36
NG_009095.2:g.19855G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2871G= MANE Select ENSP00000321618.6:p.Leu957=
ENST00000323022.9:c.2871G= ENSP00000321618.5:p.Leu957=
ENST00000376251.5:c.2709G= ENSP00000365427.1:p.Leu903=
ENST00000376265.2:c.2904G= ENSP00000365441.2:p.Leu968=
NM_001256789.2:c.2871G= NP_001243718.1:p.Leu957=
NM_001256790.2:c.2709G= NP_001243719.1:p.Leu903=
NM_005183.3:c.2904G= NP_005174.2:p.Leu968=
XM_011543983.1:c.2709G= XP_011542285.1:p.Leu903=
XM_011543983.2:c.2709G= XP_011542285.1:p.Leu903=
XM_017029836.1:c.138G= XP_016885325.1:p.Leu46=
NM_001256789.3:c.2871G= MANE Select NP_001243718.1:p.Leu957=
NM_001256790.3:c.2709G= NP_001243719.1:p.Leu903=
NM_005183.4:c.2904G= NP_005174.2:p.Leu968=