Canonical Allele Identifier: CA2428539748
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216504A= , CM000685.2:g.49216504A= GRCh38
NC_000023.10:g.49072964A= , CM000685.1:g.49072964A= GRCh37
NC_000023.9:g.48959908A= NCBI36
NG_009095.2:g.21863T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3114T= MANE Select ENSP00000321618.6:p.Asp1038=
ENST00000323022.9:c.3114T= ENSP00000321618.5:p.Asp1038=
ENST00000376251.5:c.2952T= ENSP00000365427.1:p.Asp984=
ENST00000376265.2:c.3147T= ENSP00000365441.2:p.Asp1049=
NM_001256789.2:c.3114T= NP_001243718.1:p.Asp1038=
NM_001256790.2:c.2952T= NP_001243719.1:p.Asp984=
NM_005183.3:c.3147T= NP_005174.2:p.Asp1049=
XM_011543983.1:c.2952T= XP_011542285.1:p.Asp984=
XM_011543983.2:c.2952T= XP_011542285.1:p.Asp984=
XM_017029836.1:c.381T= XP_016885325.1:p.Asp127=
NM_001256789.3:c.3114T= MANE Select NP_001243718.1:p.Asp1038=
NM_001256790.3:c.2952T= NP_001243719.1:p.Asp984=
NM_005183.4:c.3147T= NP_005174.2:p.Asp1049=