Canonical Allele Identifier: CA2820835490
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49217712dup , CM000685.2:g.49217712dup GRCh38
NC_000023.10:g.49074171dup , CM000685.1:g.49074171dup GRCh37
NC_000023.9:g.48961115dup NCBI36
NG_009095.2:g.20655dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3089+43dup MANE Select ENSP00000321618.6:n.3089+43dup
ENST00000323022.9:c.3089+43dup ENSP00000321618.5:n.3089+43dup
ENST00000376251.5:c.2927+43dup ENSP00000365427.1:n.2927+43dup
ENST00000376265.2:c.3122+43dup ENSP00000365441.2:n.3122+43dup
NM_001256789.2:c.3089+43dup NP_001243718.1:n.3089+43dup
NM_001256790.2:c.2927+43dup NP_001243719.1:n.2927+43dup
NM_005183.3:c.3122+43dup NP_005174.2:n.3122+43dup
XM_011543983.1:c.2927+43dup XP_011542285.1:n.2927+43dup
XM_011543983.2:c.2927+43dup XP_011542285.1:n.2927+43dup
XM_017029836.1:c.356+43dup XP_016885325.1:n.356+43dup
NM_001256789.3:c.3089+43dup MANE Select NP_001243718.1:n.3089+43dup
NM_001256790.3:c.2927+43dup NP_001243719.1:n.2927+43dup
NM_005183.4:c.3122+43dup NP_005174.2:n.3122+43dup