Canonical Allele Identifier: CA412919558
Community Standard Title: NM_001256789.3(CACNA1F):c.1118+1G>C
Gene: CACNA1F HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49228035C>G , CM000685.2:g.49228035C>G GRCh38
NC_000023.10:g.49084497C>G , CM000685.1:g.49084497C>G GRCh37
NC_000023.9:g.48971441C>G NCBI36
NG_009095.2:g.10332G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001256789.3:c.1118+1G>C MANE Select NP_001243718.1:n.1118+1G>C
ENST00000323022.10:c.1118+1G>C MANE Select ENSP00000321618.6:n.1118+1G>C
NM_001256789.2:c.1118+1G>C NP_001243718.1:n.1118+1G>C
NM_001256790.2:c.923+1G>C NP_001243719.1:n.923+1G>C
NM_001256790.3:c.923+1G>C NP_001243719.1:n.923+1G>C
NM_005183.3:c.1118+1G>C NP_005174.2:n.1118+1G>C
NM_005183.4:c.1118+1G>C NP_005174.2:n.1118+1G>C
ENST00000323022.9:c.1118+1G>C ENSP00000321618.5:n.1118+1G>C
ENST00000376251.5:c.923+1G>C ENSP00000365427.1:n.923+1G>C
ENST00000376265.2:c.1118+1G>C ENSP00000365441.2:n.1118+1G>C
XM_011543983.1:c.923+1G>C XP_011542285.1:n.923+1G>C
XM_011543983.2:c.923+1G>C XP_011542285.1:n.923+1G>C
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