Canonical Allele Identifier: CA875949661

Gene: CACNA1F

Linked Data

• dbSNP Id: rs782426501
• gnomAD v3: X-49216303-C-A
• gnomAD v4: X-49216303-C-A
• MyVariant Identifiers: chrX:g.49072763C>A (hg19) ; chrX:g.49216303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216303C>A , CM000685.2:g.49216303C>A	GRCh38
NC_000023.10:g.49072763C>A , CM000685.1:g.49072763C>A	GRCh37
NC_000023.9:g.48959707C>A	NCBI36
NG_009095.2:g.22064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3236+79G>T MANE Select	ENSP00000321618.6:n.3236+79G>T
ENST00000323022.9:c.3236+79G>T	ENSP00000321618.5:n.3236+79G>T
ENST00000376251.5:c.3074+79G>T	ENSP00000365427.1:n.3074+79G>T
ENST00000376265.2:c.3269+79G>T	ENSP00000365441.2:n.3269+79G>T
NM_001256789.2:c.3236+79G>T	NP_001243718.1:n.3236+79G>T
NM_001256790.2:c.3074+79G>T	NP_001243719.1:n.3074+79G>T
NM_005183.3:c.3269+79G>T	NP_005174.2:n.3269+79G>T
XM_011543983.1:c.3074+79G>T	XP_011542285.1:n.3074+79G>T
XM_011543983.2:c.3074+79G>T	XP_011542285.1:n.3074+79G>T
XM_017029836.1:c.503+79G>T	XP_016885325.1:n.503+79G>T
NM_001256789.3:c.3236+79G>T MANE Select	NP_001243718.1:n.3236+79G>T
NM_001256790.3:c.3074+79G>T	NP_001243719.1:n.3074+79G>T
NM_005183.4:c.3269+79G>T	NP_005174.2:n.3269+79G>T