Canonical Allele Identifier: CA412964427

Gene: CACNA1F

Linked Data

• dbSNP Id: rs2147907456
• MyVariant Identifiers: chrX:g.49074406G>A (hg19) ; chrX:g.49217947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217947G>A , CM000685.2:g.49217947G>A	GRCh38
NC_000023.10:g.49074406G>A , CM000685.1:g.49074406G>A	GRCh37
NC_000023.9:g.48961350G>A	NCBI36
NG_009095.2:g.20420C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2987C>T MANE Select	ENSP00000321618.6:p.Thr996Ile
ENST00000323022.9:c.2987C>T	ENSP00000321618.5:p.Thr996Ile
ENST00000376251.5:c.2825C>T	ENSP00000365427.1:p.Thr942Ile
ENST00000376265.2:c.3020C>T	ENSP00000365441.2:p.Thr1007Ile
NM_001256789.2:c.2987C>T	NP_001243718.1:p.Thr996Ile
NM_001256790.2:c.2825C>T	NP_001243719.1:p.Thr942Ile
NM_005183.3:c.3020C>T	NP_005174.2:p.Thr1007Ile
XM_011543983.1:c.2825C>T	XP_011542285.1:p.Thr942Ile
XM_011543983.2:c.2825C>T	XP_011542285.1:p.Thr942Ile
XM_017029836.1:c.254C>T	XP_016885325.1:p.Thr85Ile
NM_001256789.3:c.2987C>T MANE Select	NP_001243718.1:p.Thr996Ile
NM_001256790.3:c.2825C>T	NP_001243719.1:p.Thr942Ile
NM_005183.4:c.3020C>T	NP_005174.2:p.Thr1007Ile