Canonical Allele Identifier: CA2428540223
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49217924C= , CM000685.2:g.49217924C= GRCh38
NC_000023.10:g.49074383C= , CM000685.1:g.49074383C= GRCh37
NC_000023.9:g.48961327C= NCBI36
NG_009095.2:g.20443G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3010G= MANE Select ENSP00000321618.6:p.Ala1004=
ENST00000323022.9:c.3010G= ENSP00000321618.5:p.Ala1004=
ENST00000376251.5:c.2848G= ENSP00000365427.1:p.Ala950=
ENST00000376265.2:c.3043G= ENSP00000365441.2:p.Ala1015=
NM_001256789.2:c.3010G= NP_001243718.1:p.Ala1004=
NM_001256790.2:c.2848G= NP_001243719.1:p.Ala950=
NM_005183.3:c.3043G= NP_005174.2:p.Ala1015=
XM_011543983.1:c.2848G= XP_011542285.1:p.Ala950=
XM_011543983.2:c.2848G= XP_011542285.1:p.Ala950=
XM_017029836.1:c.277G= XP_016885325.1:p.Ala93=
NM_001256789.3:c.3010G= MANE Select NP_001243718.1:p.Ala1004=
NM_001256790.3:c.2848G= NP_001243719.1:p.Ala950=
NM_005183.4:c.3043G= NP_005174.2:p.Ala1015=