Canonical Allele Identifier: CA412964560

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49074466T>A (hg19) ; chrX:g.49218007T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218007T>A , CM000685.2:g.49218007T>A	GRCh38
NC_000023.10:g.49074466T>A , CM000685.1:g.49074466T>A	GRCh37
NC_000023.9:g.48961410T>A	NCBI36
NG_009095.2:g.20360A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2929-2A>T MANE Select	ENSP00000321618.6:n.2929-2A>T
ENST00000323022.9:c.2929-2A>T	ENSP00000321618.5:n.2929-2A>T
ENST00000376251.5:c.2767-2A>T	ENSP00000365427.1:n.2767-2A>T
ENST00000376265.2:c.2962-2A>T	ENSP00000365441.2:n.2962-2A>T
NM_001256789.2:c.2929-2A>T	NP_001243718.1:n.2929-2A>T
NM_001256790.2:c.2767-2A>T	NP_001243719.1:n.2767-2A>T
NM_005183.3:c.2962-2A>T	NP_005174.2:n.2962-2A>T
XM_011543983.1:c.2767-2A>T	XP_011542285.1:n.2767-2A>T
XM_011543983.2:c.2767-2A>T	XP_011542285.1:n.2767-2A>T
XM_017029836.1:c.196-2A>T	XP_016885325.1:n.196-2A>T
NM_001256789.3:c.2929-2A>T MANE Select	NP_001243718.1:n.2929-2A>T
NM_001256790.3:c.2767-2A>T	NP_001243719.1:n.2767-2A>T
NM_005183.4:c.2962-2A>T	NP_005174.2:n.2962-2A>T