Canonical Allele Identifier: CA10605098
Community Standard Title: NM_001256789.3(CACNA1F):c.2543+1G>A
Gene: CACNA1F HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49219633C>T , CM000685.2:g.49219633C>T GRCh38
NC_000023.10:g.49076092C>T , CM000685.1:g.49076092C>T GRCh37
NC_000023.9:g.48963036C>T NCBI36
NG_009095.2:g.18734G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001256789.3:c.2543+1G>A MANE Select NP_001243718.1:n.2543+1G>A
ENST00000323022.10:c.2543+1G>A MANE Select ENSP00000321618.6:n.2543+1G>A
NM_001256789.2:c.2543+1G>A NP_001243718.1:n.2543+1G>A
NM_001256790.2:c.2381+1G>A NP_001243719.1:n.2381+1G>A
NM_001256790.3:c.2381+1G>A NP_001243719.1:n.2381+1G>A
NM_005183.3:c.2576+1G>A NP_005174.2:n.2576+1G>A
NM_005183.4:c.2576+1G>A NP_005174.2:n.2576+1G>A
ENST00000323022.9:c.2543+1G>A ENSP00000321618.5:n.2543+1G>A
ENST00000376251.5:c.2381+1G>A ENSP00000365427.1:n.2381+1G>A
ENST00000376265.2:c.2576+1G>A ENSP00000365441.2:n.2576+1G>A
XM_011543983.1:c.2381+1G>A XP_011542285.1:n.2381+1G>A
XM_011543983.2:c.2381+1G>A XP_011542285.1:n.2381+1G>A
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