Canonical Allele Identifier: CA412964429

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49217947-G-T
• MyVariant Identifiers: chrX:g.49074406G>T (hg19) ; chrX:g.49217947G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2987C>A MANE Select	ENSP00000321618.6:p.Thr996Asn
ENST00000323022.9:c.2987C>A	ENSP00000321618.5:p.Thr996Asn
ENST00000376251.5:c.2825C>A	ENSP00000365427.1:p.Thr942Asn
ENST00000376265.2:c.3020C>A	ENSP00000365441.2:p.Thr1007Asn
NM_001256789.2:c.2987C>A	NP_001243718.1:p.Thr996Asn
NM_001256790.2:c.2825C>A	NP_001243719.1:p.Thr942Asn
NM_005183.3:c.3020C>A	NP_005174.2:p.Thr1007Asn
XM_011543983.1:c.2825C>A	XP_011542285.1:p.Thr942Asn
XM_011543983.2:c.2825C>A	XP_011542285.1:p.Thr942Asn
XM_017029836.1:c.254C>A	XP_016885325.1:p.Thr85Asn
NM_001256789.3:c.2987C>A MANE Select	NP_001243718.1:p.Thr996Asn
NM_001256790.3:c.2825C>A	NP_001243719.1:p.Thr942Asn
NM_005183.4:c.3020C>A	NP_005174.2:p.Thr1007Asn