Canonical Allele Identifier: CA10410513

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 964360
• ClinVar RCV Id: RCV001238566
• dbSNP Id: rs370329845
• ExAC: X:49072842 G / A
• gnomAD v2: X-49072842-G-A
• gnomAD v3: X-49216382-G-A
• gnomAD v4: X-49216382-G-A
• COSMIC: COSM1199278
• MyVariant Identifiers: chrX:g.49072842G>A (hg19) ; chrX:g.49216382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216382G>A , CM000685.2:g.49216382G>A	GRCh38
NC_000023.10:g.49072842G>A , CM000685.1:g.49072842G>A	GRCh37
NC_000023.9:g.48959786G>A	NCBI36
NG_009095.2:g.21985C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323022.10:c.3236C>T MANE Select	ENSP00000321618.6:p.Ala1079Val
ENST00000323022.9:c.3236C>T	ENSP00000321618.5:p.Ala1079Val
ENST00000376251.5:c.3074C>T	ENSP00000365427.1:p.Ala1025Val
ENST00000376265.2:c.3269C>T	ENSP00000365441.2:p.Ala1090Val
NM_001256789.2:c.3236C>T	NP_001243718.1:p.Ala1079Val
NM_001256790.2:c.3074C>T	NP_001243719.1:p.Ala1025Val
NM_005183.3:c.3269C>T	NP_005174.2:p.Ala1090Val
XM_011543983.1:c.3074C>T	XP_011542285.1:p.Ala1025Val
XM_011543983.2:c.3074C>T	XP_011542285.1:p.Ala1025Val
XM_017029836.1:c.503C>T	XP_016885325.1:p.Ala168Val
NM_001256789.3:c.3236C>T MANE Select	NP_001243718.1:p.Ala1079Val
NM_001256790.3:c.3074C>T	NP_001243719.1:p.Ala1025Val
NM_005183.4:c.3269C>T	NP_005174.2:p.Ala1090Val