Canonical Allele Identifier: CA641531058

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1557107340
• gnomAD v2: X-49072685-C-G
• gnomAD v3: X-49216225-C-G
• gnomAD v4: X-49216225-C-G
• MyVariant Identifiers: chrX:g.49072685C>G (hg19) ; chrX:g.49216225C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216225C>G , CM000685.2:g.49216225C>G	GRCh38
NC_000023.10:g.49072685C>G , CM000685.1:g.49072685C>G	GRCh37
NC_000023.9:g.48959629C>G	NCBI36
NG_009095.2:g.22142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3236+157G>C MANE Select	ENSP00000321618.6:n.3236+157G>C
ENST00000323022.9:c.3236+157G>C	ENSP00000321618.5:n.3236+157G>C
ENST00000376251.5:c.3074+157G>C	ENSP00000365427.1:n.3074+157G>C
ENST00000376265.2:c.3269+157G>C	ENSP00000365441.2:n.3269+157G>C
NM_001256789.2:c.3236+157G>C	NP_001243718.1:n.3236+157G>C
NM_001256790.2:c.3074+157G>C	NP_001243719.1:n.3074+157G>C
NM_005183.3:c.3269+157G>C	NP_005174.2:n.3269+157G>C
XM_011543983.1:c.3074+157G>C	XP_011542285.1:n.3074+157G>C
XM_011543983.2:c.3074+157G>C	XP_011542285.1:n.3074+157G>C
XM_017029836.1:c.503+157G>C	XP_016885325.1:n.503+157G>C
NM_001256789.3:c.3236+157G>C MANE Select	NP_001243718.1:n.3236+157G>C
NM_001256790.3:c.3074+157G>C	NP_001243719.1:n.3074+157G>C
NM_005183.4:c.3269+157G>C	NP_005174.2:n.3269+157G>C