Canonical Allele Identifier: CA875949988
Gene: CACNA1F HGNC NCBI

Linked Data

dbSNP Id: rs1406817486
MyVariant Identifiers: chrX:g.49216540C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216540C>G , CM000685.2:g.49216540C>G GRCh38
NC_000023.10:g.49073000C>G , CM000685.1:g.49073000C>G GRCh37
NC_000023.9:g.48959944C>G NCBI36
NG_009095.2:g.21827G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3090-12G>C MANE Select ENSP00000321618.6:n.3090-12G>C
ENST00000323022.9:c.3090-12G>C ENSP00000321618.5:n.3090-12G>C
ENST00000376251.5:c.2928-12G>C ENSP00000365427.1:n.2928-12G>C
ENST00000376265.2:c.3123-12G>C ENSP00000365441.2:n.3123-12G>C
NM_001256789.2:c.3090-12G>C NP_001243718.1:n.3090-12G>C
NM_001256790.2:c.2928-12G>C NP_001243719.1:n.2928-12G>C
NM_005183.3:c.3123-12G>C NP_005174.2:n.3123-12G>C
XM_011543983.1:c.2928-12G>C XP_011542285.1:n.2928-12G>C
XM_011543983.2:c.2928-12G>C XP_011542285.1:n.2928-12G>C
XM_017029836.1:c.357-12G>C XP_016885325.1:n.357-12G>C
NM_001256789.3:c.3090-12G>C MANE Select NP_001243718.1:n.3090-12G>C
NM_001256790.3:c.2928-12G>C NP_001243719.1:n.2928-12G>C
NM_005183.4:c.3123-12G>C NP_005174.2:n.3123-12G>C