Canonical Allele Identifier: CA412963971

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 438123
• ClinVar RCV Id: RCV000505176
• dbSNP Id: rs1557107417
• MyVariant Identifiers: chrX:g.49072898A>C (hg19) ; chrX:g.49216438A>C (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216438A>C , CM000685.2:g.49216438A>C	GRCh38
NC_000023.10:g.49072898A>C , CM000685.1:g.49072898A>C	GRCh37
NC_000023.9:g.48959842A>C	NCBI36
NG_009095.2:g.21929T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3180T>G MANE Select	ENSP00000321618.6:p.Asn1060Lys
ENST00000323022.9:c.3180T>G	ENSP00000321618.5:p.Asn1060Lys
ENST00000376251.5:c.3018T>G	ENSP00000365427.1:p.Asn1006Lys
ENST00000376265.2:c.3213T>G	ENSP00000365441.2:p.Asn1071Lys
NM_001256789.2:c.3180T>G	NP_001243718.1:p.Asn1060Lys
NM_001256790.2:c.3018T>G	NP_001243719.1:p.Asn1006Lys
NM_005183.3:c.3213T>G	NP_005174.2:p.Asn1071Lys
XM_011543983.1:c.3018T>G	XP_011542285.1:p.Asn1006Lys
XM_011543983.2:c.3018T>G	XP_011542285.1:p.Asn1006Lys
XM_017029836.1:c.447T>G	XP_016885325.1:p.Asn149Lys
NM_001256789.3:c.3180T>G MANE Select	NP_001243718.1:p.Asn1060Lys
NM_001256790.3:c.3018T>G	NP_001243719.1:p.Asn1006Lys
NM_005183.4:c.3213T>G	NP_005174.2:p.Asn1071Lys