Canonical Allele Identifier: CA2573158897

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 1422805
• ClinVar RCV Id: RCV001926250
• dbSNP Id: rs2147904608

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216394del , CM000685.2:g.49216394del	GRCh38
NC_000023.10:g.49072854del , CM000685.1:g.49072854del	GRCh37
NC_000023.9:g.48959798del	NCBI36
NG_009095.2:g.21974del

Transcript Alleles

HGVS	Amino-acid change
ENST00000323022.10:c.3225del MANE Select	ENSP00000321618.6:p.Gly1076AlafsTer?
ENST00000323022.9:c.3225del	ENSP00000321618.5:p.Gly1076AlafsTer?
ENST00000376251.5:c.3063del	ENSP00000365427.1:p.Gly1022AlafsTer?
ENST00000376265.2:c.3258del	ENSP00000365441.2:p.Gly1087AlafsTer?
NM_001256789.2:c.3225del	NP_001243718.1:p.Gly1076AlafsTer?
NM_001256790.2:c.3063del	NP_001243719.1:p.Gly1022AlafsTer?
NM_005183.3:c.3258del	NP_005174.2:p.Gly1087AlafsTer?
XM_011543983.1:c.3063del	XP_011542285.1:p.Gly1022AlafsTer?
XM_011543983.2:c.3063del	XP_011542285.1:p.Gly1022AlafsTer?
XM_017029836.1:c.492del	XP_016885325.1:p.Gly165AlafsTer?
NM_001256789.3:c.3225del MANE Select	NP_001243718.1:p.Gly1076AlafsTer?
NM_001256790.3:c.3063del	NP_001243719.1:p.Gly1022AlafsTer?
NM_005183.4:c.3258del	NP_005174.2:p.Gly1087AlafsTer?