Canonical Allele Identifier: CA2564399443
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218030A>C , CM000685.2:g.49218030A>C GRCh38
NC_000023.10:g.49074489A>C , CM000685.1:g.49074489A>C GRCh37
NC_000023.9:g.48961433A>C NCBI36
NG_009095.2:g.20337T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2929-25T>G MANE Select ENSP00000321618.6:n.2929-25T>G
ENST00000323022.9:c.2929-25T>G ENSP00000321618.5:n.2929-25T>G
ENST00000376251.5:c.2767-25T>G ENSP00000365427.1:n.2767-25T>G
ENST00000376265.2:c.2962-25T>G ENSP00000365441.2:n.2962-25T>G
NM_001256789.2:c.2929-25T>G NP_001243718.1:n.2929-25T>G
NM_001256790.2:c.2767-25T>G NP_001243719.1:n.2767-25T>G
NM_005183.3:c.2962-25T>G NP_005174.2:n.2962-25T>G
XM_011543983.1:c.2767-25T>G XP_011542285.1:n.2767-25T>G
XM_011543983.2:c.2767-25T>G XP_011542285.1:n.2767-25T>G
XM_017029836.1:c.196-25T>G XP_016885325.1:n.196-25T>G
NM_001256789.3:c.2929-25T>G MANE Select NP_001243718.1:n.2929-25T>G
NM_001256790.3:c.2767-25T>G NP_001243719.1:n.2767-25T>G
NM_005183.4:c.2962-25T>G NP_005174.2:n.2962-25T>G