Canonical Allele Identifier: CA2428539730
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216457C= , CM000685.2:g.49216457C= GRCh38
NC_000023.10:g.49072917C= , CM000685.1:g.49072917C= GRCh37
NC_000023.9:g.48959861C= NCBI36
NG_009095.2:g.21910G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3161G= MANE Select ENSP00000321618.6:p.Ser1054=
ENST00000323022.9:c.3161G= ENSP00000321618.5:p.Ser1054=
ENST00000376251.5:c.2999G= ENSP00000365427.1:p.Ser1000=
ENST00000376265.2:c.3194G= ENSP00000365441.2:p.Ser1065=
NM_001256789.2:c.3161G= NP_001243718.1:p.Ser1054=
NM_001256790.2:c.2999G= NP_001243719.1:p.Ser1000=
NM_005183.3:c.3194G= NP_005174.2:p.Ser1065=
XM_011543983.1:c.2999G= XP_011542285.1:p.Ser1000=
XM_011543983.2:c.2999G= XP_011542285.1:p.Ser1000=
XM_017029836.1:c.428G= XP_016885325.1:p.Ser143=
NM_001256789.3:c.3161G= MANE Select NP_001243718.1:p.Ser1054=
NM_001256790.3:c.2999G= NP_001243719.1:p.Ser1000=
NM_005183.4:c.3194G= NP_005174.2:p.Ser1065=