Canonical Allele Identifier: CA412964443

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1212056376
• gnomAD v3: X-49217954-T-C
• gnomAD v4: X-49217954-T-C
• MyVariant Identifiers: chrX:g.49074413T>C (hg19) ; chrX:g.49217954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217954T>C , CM000685.2:g.49217954T>C	GRCh38
NC_000023.10:g.49074413T>C , CM000685.1:g.49074413T>C	GRCh37
NC_000023.9:g.48961357T>C	NCBI36
NG_009095.2:g.20413A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2980A>G MANE Select	ENSP00000321618.6:p.Ile994Val
ENST00000323022.9:c.2980A>G	ENSP00000321618.5:p.Ile994Val
ENST00000376251.5:c.2818A>G	ENSP00000365427.1:p.Ile940Val
ENST00000376265.2:c.3013A>G	ENSP00000365441.2:p.Ile1005Val
NM_001256789.2:c.2980A>G	NP_001243718.1:p.Ile994Val
NM_001256790.2:c.2818A>G	NP_001243719.1:p.Ile940Val
NM_005183.3:c.3013A>G	NP_005174.2:p.Ile1005Val
XM_011543983.1:c.2818A>G	XP_011542285.1:p.Ile940Val
XM_011543983.2:c.2818A>G	XP_011542285.1:p.Ile940Val
XM_017029836.1:c.247A>G	XP_016885325.1:p.Ile83Val
NM_001256789.3:c.2980A>G MANE Select	NP_001243718.1:p.Ile994Val
NM_001256790.3:c.2818A>G	NP_001243719.1:p.Ile940Val
NM_005183.4:c.3013A>G	NP_005174.2:p.Ile1005Val