Canonical Allele Identifier: CA10411134
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49231862C>T , CM000685.2:g.49231862C>T GRCh38
NC_000023.10:g.49088324C>T , CM000685.1:g.49088324C>T GRCh37
NC_000023.9:g.48975268C>T NCBI36
NG_009095.2:g.6505G>A
NG_021311.2:g.1398C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.91G>A MANE Select ENSP00000321618.6:p.Gly31Arg
ENST00000323022.9:c.91G>A ENSP00000321618.5:p.Gly31Arg
ENST00000376251.5:c.66-170G>A ENSP00000365427.1:n.66-170G>A
ENST00000376265.2:c.91G>A ENSP00000365441.2:p.Gly31Arg
NM_001256789.2:c.91G>A NP_001243718.1:p.Gly31Arg
NM_001256790.2:c.66-170G>A NP_001243719.1:n.66-170G>A
NM_005183.3:c.91G>A NP_005174.2:p.Gly31Arg
XM_011543983.1:c.66-170G>A XP_011542285.1:n.66-170G>A
XM_011543983.2:c.66-170G>A XP_011542285.1:n.66-170G>A
NM_001256789.3:c.91G>A MANE Select NP_001243718.1:p.Gly31Arg
NM_001256790.3:c.66-170G>A NP_001243719.1:n.66-170G>A
NM_005183.4:c.91G>A NP_005174.2:p.Gly31Arg