Canonical Allele Identifier: CA412964023
Gene: CACNA1F HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216458T>A , CM000685.2:g.49216458T>A GRCh38
NC_000023.10:g.49072918T>A , CM000685.1:g.49072918T>A GRCh37
NC_000023.9:g.48959862T>A NCBI36
NG_009095.2:g.21909A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3160A>T MANE Select ENSP00000321618.6:p.Ser1054Cys
ENST00000323022.9:c.3160A>T ENSP00000321618.5:p.Ser1054Cys
ENST00000376251.5:c.2998A>T ENSP00000365427.1:p.Ser1000Cys
ENST00000376265.2:c.3193A>T ENSP00000365441.2:p.Ser1065Cys
NM_001256789.2:c.3160A>T NP_001243718.1:p.Ser1054Cys
NM_001256790.2:c.2998A>T NP_001243719.1:p.Ser1000Cys
NM_005183.3:c.3193A>T NP_005174.2:p.Ser1065Cys
XM_011543983.1:c.2998A>T XP_011542285.1:p.Ser1000Cys
XM_011543983.2:c.2998A>T XP_011542285.1:p.Ser1000Cys
XM_017029836.1:c.427A>T XP_016885325.1:p.Ser143Cys
NM_001256789.3:c.3160A>T MANE Select NP_001243718.1:p.Ser1054Cys
NM_001256790.3:c.2998A>T NP_001243719.1:p.Ser1000Cys
NM_005183.4:c.3193A>T NP_005174.2:p.Ser1065Cys