Canonical Allele Identifier: CA2842013637
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49213916A>G , CM000685.2:g.49213916A>G GRCh38
NC_000023.10:g.49070376A>G , CM000685.1:g.49070376A>G GRCh37
NC_000023.9:g.48957320A>G NCBI36
NG_009095.2:g.24451T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3709-14T>C MANE Select ENSP00000321618.6:n.3709-14T>C
ENST00000323022.9:c.3709-14T>C ENSP00000321618.5:n.3709-14T>C
ENST00000376251.5:c.3547-14T>C ENSP00000365427.1:n.3547-14T>C
ENST00000376265.2:c.3742-14T>C ENSP00000365441.2:n.3742-14T>C
NM_001256789.2:c.3709-14T>C NP_001243718.1:n.3709-14T>C
NM_001256790.2:c.3547-14T>C NP_001243719.1:n.3547-14T>C
NM_005183.3:c.3742-14T>C NP_005174.2:n.3742-14T>C
XM_011543983.1:c.3547-14T>C XP_011542285.1:n.3547-14T>C
XM_011543983.2:c.3547-14T>C XP_011542285.1:n.3547-14T>C
XM_017029836.1:c.976-14T>C XP_016885325.1:n.976-14T>C
NM_001256789.3:c.3709-14T>C MANE Select NP_001243718.1:n.3709-14T>C
NM_001256790.3:c.3547-14T>C NP_001243719.1:n.3547-14T>C
NM_005183.4:c.3742-14T>C NP_005174.2:n.3742-14T>C