Canonical Allele Identifier: CA10410511

Gene: CACNA1F

Linked Data

• dbSNP Id: rs782367537
• ExAC: X:49072821 A / G
• gnomAD v2: X-49072821-A-G
• gnomAD v4: X-49216361-A-G
• MyVariant Identifiers: chrX:g.49072821A>G (hg19) ; chrX:g.49216361A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216361A>G , CM000685.2:g.49216361A>G	GRCh38
NC_000023.10:g.49072821A>G , CM000685.1:g.49072821A>G	GRCh37
NC_000023.9:g.48959765A>G	NCBI36
NG_009095.2:g.22006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3236+21T>C MANE Select	ENSP00000321618.6:n.3236+21T>C
ENST00000323022.9:c.3236+21T>C	ENSP00000321618.5:n.3236+21T>C
ENST00000376251.5:c.3074+21T>C	ENSP00000365427.1:n.3074+21T>C
ENST00000376265.2:c.3269+21T>C	ENSP00000365441.2:n.3269+21T>C
NM_001256789.2:c.3236+21T>C	NP_001243718.1:n.3236+21T>C
NM_001256790.2:c.3074+21T>C	NP_001243719.1:n.3074+21T>C
NM_005183.3:c.3269+21T>C	NP_005174.2:n.3269+21T>C
XM_011543983.1:c.3074+21T>C	XP_011542285.1:n.3074+21T>C
XM_011543983.2:c.3074+21T>C	XP_011542285.1:n.3074+21T>C
XM_017029836.1:c.503+21T>C	XP_016885325.1:n.503+21T>C
NM_001256789.3:c.3236+21T>C MANE Select	NP_001243718.1:n.3236+21T>C
NM_001256790.3:c.3074+21T>C	NP_001243719.1:n.3074+21T>C
NM_005183.4:c.3269+21T>C	NP_005174.2:n.3269+21T>C