Canonical Allele Identifier: CA2428539742
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216484A= , CM000685.2:g.49216484A= GRCh38
NC_000023.10:g.49072944A= , CM000685.1:g.49072944A= GRCh37
NC_000023.9:g.48959888A= NCBI36
NG_009095.2:g.21883T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3134T= MANE Select ENSP00000321618.6:p.Leu1045=
ENST00000323022.9:c.3134T= ENSP00000321618.5:p.Leu1045=
ENST00000376251.5:c.2972T= ENSP00000365427.1:p.Leu991=
ENST00000376265.2:c.3167T= ENSP00000365441.2:p.Leu1056=
NM_001256789.2:c.3134T= NP_001243718.1:p.Leu1045=
NM_001256790.2:c.2972T= NP_001243719.1:p.Leu991=
NM_005183.3:c.3167T= NP_005174.2:p.Leu1056=
XM_011543983.1:c.2972T= XP_011542285.1:p.Leu991=
XM_011543983.2:c.2972T= XP_011542285.1:p.Leu991=
XM_017029836.1:c.401T= XP_016885325.1:p.Leu134=
NM_001256789.3:c.3134T= MANE Select NP_001243718.1:p.Leu1045=
NM_001256790.3:c.2972T= NP_001243719.1:p.Leu991=
NM_005183.4:c.3167T= NP_005174.2:p.Leu1056=