Canonical Allele Identifier: CA255938

Gene: CACNA1F

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

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