Canonical Allele Identifier: CA412964086

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 3001773
• ClinVar RCV Id: RCV003862836
• dbSNP Id: rs1557107449
• gnomAD v2: X-49072951-G-A
• gnomAD v4: X-49216491-G-A
• COSMIC: COSM4822035
• MyVariant Identifiers: chrX:g.49072951G>A (hg19) ; chrX:g.49216491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216491G>A , CM000685.2:g.49216491G>A	GRCh38
NC_000023.10:g.49072951G>A , CM000685.1:g.49072951G>A	GRCh37
NC_000023.9:g.48959895G>A	NCBI36
NG_009095.2:g.21876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3127C>T MANE Select	ENSP00000321618.6:p.Arg1043Trp
ENST00000323022.9:c.3127C>T	ENSP00000321618.5:p.Arg1043Trp
ENST00000376251.5:c.2965C>T	ENSP00000365427.1:p.Arg989Trp
ENST00000376265.2:c.3160C>T	ENSP00000365441.2:p.Arg1054Trp
NM_001256789.2:c.3127C>T	NP_001243718.1:p.Arg1043Trp
NM_001256790.2:c.2965C>T	NP_001243719.1:p.Arg989Trp
NM_005183.3:c.3160C>T	NP_005174.2:p.Arg1054Trp
XM_011543983.1:c.2965C>T	XP_011542285.1:p.Arg989Trp
XM_011543983.2:c.2965C>T	XP_011542285.1:p.Arg989Trp
XM_017029836.1:c.394C>T	XP_016885325.1:p.Arg132Trp
NM_001256789.3:c.3127C>T MANE Select	NP_001243718.1:p.Arg1043Trp
NM_001256790.3:c.2965C>T	NP_001243719.1:p.Arg989Trp
NM_005183.4:c.3160C>T	NP_005174.2:p.Arg1054Trp