Canonical Allele Identifier: CA412964013

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1557107422
• gnomAD v2: X-49072914-T-C
• gnomAD v3: X-49216454-T-C
• gnomAD v4: X-49216454-T-C
• MyVariant Identifiers: chrX:g.49072914T>C (hg19) ; chrX:g.49216454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216454T>C , CM000685.2:g.49216454T>C	GRCh38
NC_000023.10:g.49072914T>C , CM000685.1:g.49072914T>C	GRCh37
NC_000023.9:g.48959858T>C	NCBI36
NG_009095.2:g.21913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3164A>G MANE Select	ENSP00000321618.6:p.Asp1055Gly
ENST00000323022.9:c.3164A>G	ENSP00000321618.5:p.Asp1055Gly
ENST00000376251.5:c.3002A>G	ENSP00000365427.1:p.Asp1001Gly
ENST00000376265.2:c.3197A>G	ENSP00000365441.2:p.Asp1066Gly
NM_001256789.2:c.3164A>G	NP_001243718.1:p.Asp1055Gly
NM_001256790.2:c.3002A>G	NP_001243719.1:p.Asp1001Gly
NM_005183.3:c.3197A>G	NP_005174.2:p.Asp1066Gly
XM_011543983.1:c.3002A>G	XP_011542285.1:p.Asp1001Gly
XM_011543983.2:c.3002A>G	XP_011542285.1:p.Asp1001Gly
XM_017029836.1:c.431A>G	XP_016885325.1:p.Asp144Gly
NM_001256789.3:c.3164A>G MANE Select	NP_001243718.1:p.Asp1055Gly
NM_001256790.3:c.3002A>G	NP_001243719.1:p.Asp1001Gly
NM_005183.4:c.3197A>G	NP_005174.2:p.Asp1066Gly