Canonical Allele Identifier: CA236350

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 191247
• ClinVar RCV Id: RCV000171437
• dbSNP Id: rs797044562
• MyVariant Identifiers: chrX:g.49074218A>G (hg19) ; chrX:g.49217759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217759A>G , CM000685.2:g.49217759A>G	GRCh38
NC_000023.10:g.49074218A>G , CM000685.1:g.49074218A>G	GRCh37
NC_000023.9:g.48961162A>G	NCBI36
NG_009095.2:g.20608T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3085T>C MANE Select	ENSP00000321618.6:p.Cys1029Arg
ENST00000323022.9:c.3085T>C	ENSP00000321618.5:p.Cys1029Arg
ENST00000376251.5:c.2923T>C	ENSP00000365427.1:p.Cys975Arg
ENST00000376265.2:c.3118T>C	ENSP00000365441.2:p.Cys1040Arg
NM_001256789.2:c.3085T>C	NP_001243718.1:p.Cys1029Arg
NM_001256790.2:c.2923T>C	NP_001243719.1:p.Cys975Arg
NM_005183.3:c.3118T>C	NP_005174.2:p.Cys1040Arg
XM_011543983.1:c.2923T>C	XP_011542285.1:p.Cys975Arg
XM_011543983.2:c.2923T>C	XP_011542285.1:p.Cys975Arg
XM_017029836.1:c.352T>C	XP_016885325.1:p.Cys118Arg
NM_001256789.3:c.3085T>C MANE Select	NP_001243718.1:p.Cys1029Arg
NM_001256790.3:c.2923T>C	NP_001243719.1:p.Cys975Arg
NM_005183.4:c.3118T>C	NP_005174.2:p.Cys1040Arg