Canonical Allele Identifier: CA255938
Gene: CACNA1F HGNC NCBI

Linked Data

ClinVar Variation Id: 11615
ClinVar RCV Id: RCV000012381 RCV000504913 RCV001073304 RCV001388118
dbSNP Id: rs122456134
gnomAD v4: X-49218511-G-A
MyVariant Identifiers: chrX:g.49074970G>A (hg19) chrX:g.49218511G>A (hg38)
PubMed: PMID:9662399 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218511G>A , CM000685.2:g.49218511G>A GRCh38
NC_000023.10:g.49074970G>A , CM000685.1:g.49074970G>A GRCh37
NC_000023.9:g.48961914G>A NCBI36
NG_009095.2:g.19856C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000323022.10:c.2872C>T MANE Select ENSP00000321618.6:p.Arg958Ter
ENST00000323022.9:c.2872C>T ENSP00000321618.5:p.Arg958Ter
ENST00000376251.5:c.2710C>T ENSP00000365427.1:p.Arg904Ter
ENST00000376265.2:c.2905C>T ENSP00000365441.2:p.Arg969Ter
NM_001256789.2:c.2872C>T NP_001243718.1:p.Arg958Ter
NM_001256790.2:c.2710C>T NP_001243719.1:p.Arg904Ter
NM_005183.3:c.2905C>T NP_005174.2:p.Arg969Ter
XM_011543983.1:c.2710C>T XP_011542285.1:p.Arg904Ter
XM_011543983.2:c.2710C>T XP_011542285.1:p.Arg904Ter
XM_017029836.1:c.139C>T XP_016885325.1:p.Arg47Ter
NM_001256789.3:c.2872C>T MANE Select NP_001243718.1:p.Arg958Ter
NM_001256790.3:c.2710C>T NP_001243719.1:p.Arg904Ter
NM_005183.4:c.2905C>T NP_005174.2:p.Arg969Ter
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