Canonical Allele Identifier: CA228910
Gene: CACNA1F HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.49205282C>T
GRCh37 chrX:g.49061742C>T
Revel Score:
ENST00000376251 0.051
ENST00000323022 (MANE Select) 0.051
ENST00000376265 0.051
gnomAD v2:
X:49061742 C / T
gnomAD v3:
X:49205282 C / T
gnomAD v4:
chrX-49205282-C-T
Joint Max Group AF 0.21617427 (SAS)
Genomes Max Group AF 0.2049788 (SAS)
Exomes Max Group AF 0.21607361 (SAS)
ClinVar RCV:
RCV000086958
RCV000241760
ClinVar Variation:
100576
dbSNP:
33910054
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49205282C>T , CM000685.2:g.49205282C>T GRCh38
NC_000023.10:g.49061742C>T , CM000685.1:g.49061742C>T GRCh37
NC_000023.9:g.48948686C>T NCBI36
NG_009095.2:g.33085G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.5756G>A MANE Select ENSP00000321618.6:p.Arg1919His
ENST00000323022.9:c.5756G>A ENSP00000321618.5:p.Arg1919His
ENST00000376251.5:c.5594G>A ENSP00000365427.1:p.Arg1865His
ENST00000376265.2:c.5789G>A ENSP00000365441.2:p.Arg1930His
NM_001256789.2:c.5756G>A NP_001243718.1:p.Arg1919His
NM_001256790.2:c.5594G>A NP_001243719.1:p.Arg1865His
NM_005183.3:c.5789G>A NP_005174.2:p.Arg1930His
XM_011543983.1:c.5573G>A XP_011542285.1:p.Arg1858His
XM_011543983.2:c.5573G>A XP_011542285.1:p.Arg1858His
XM_017029836.1:c.2939G>A XP_016885325.1:p.Arg980His
NM_001256789.3:c.5756G>A MANE Select NP_001243718.1:p.Arg1919His
NM_001256790.3:c.5594G>A NP_001243719.1:p.Arg1865His
NM_005183.4:c.5789G>A NP_005174.2:p.Arg1930His
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