Canonical Allele Identifier: CA641531746

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1557108215
• gnomAD v2: X-49075710-C-T
• gnomAD v3: X-49219251-C-T
• gnomAD v4: X-49219251-C-T
• MyVariant Identifiers: chrX:g.49075710C>T (hg19) ; chrX:g.49219251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49219251C>T , CM000685.2:g.49219251C>T	GRCh38
NC_000023.10:g.49075710C>T , CM000685.1:g.49075710C>T	GRCh37
NC_000023.9:g.48962654C>T	NCBI36
NG_009095.2:g.19116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2673+70G>A MANE Select	ENSP00000321618.6:n.2673+70G>A
ENST00000323022.9:c.2673+70G>A	ENSP00000321618.5:n.2673+70G>A
ENST00000376251.5:c.2511+70G>A	ENSP00000365427.1:n.2511+70G>A
ENST00000376265.2:c.2706+70G>A	ENSP00000365441.2:n.2706+70G>A
NM_001256789.2:c.2673+70G>A	NP_001243718.1:n.2673+70G>A
NM_001256790.2:c.2511+70G>A	NP_001243719.1:n.2511+70G>A
NM_005183.3:c.2706+70G>A	NP_005174.2:n.2706+70G>A
XM_011543983.1:c.2511+70G>A	XP_011542285.1:n.2511+70G>A
XM_011543983.2:c.2511+70G>A	XP_011542285.1:n.2511+70G>A
XM_017029836.1:c.-61+70G>A	XP_016885325.1:n.-61+70G>A
NM_001256789.3:c.2673+70G>A MANE Select	NP_001243718.1:n.2673+70G>A
NM_001256790.3:c.2511+70G>A	NP_001243719.1:n.2511+70G>A
NM_005183.4:c.2706+70G>A	NP_005174.2:n.2706+70G>A