Canonical Allele Identifier: CA516377447

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49217973-C-G
• MyVariant Identifiers: chrX:g.49074432C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217973C>G , CM000685.2:g.49217973C>G	GRCh38
NC_000023.10:g.49074432C>G , CM000685.1:g.49074432C>G	GRCh37
NC_000023.9:g.48961376C>G	NCBI36
NG_009095.2:g.20394G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2961G>C MANE Select	ENSP00000321618.6:p.Arg987=
ENST00000323022.9:c.2961G>C	ENSP00000321618.5:p.Arg987=
ENST00000376251.5:c.2799G>C	ENSP00000365427.1:p.Arg933=
ENST00000376265.2:c.2994G>C	ENSP00000365441.2:p.Arg998=
NM_001256789.2:c.2961G>C	NP_001243718.1:p.Arg987=
NM_001256790.2:c.2799G>C	NP_001243719.1:p.Arg933=
NM_005183.3:c.2994G>C	NP_005174.2:p.Arg998=
XM_011543983.1:c.2799G>C	XP_011542285.1:p.Arg933=
XM_011543983.2:c.2799G>C	XP_011542285.1:p.Arg933=
XM_017029836.1:c.228G>C	XP_016885325.1:p.Arg76=
NM_001256789.3:c.2961G>C MANE Select	NP_001243718.1:p.Arg987=
NM_001256790.3:c.2799G>C	NP_001243719.1:p.Arg933=
NM_005183.4:c.2994G>C	NP_005174.2:p.Arg998=