Canonical Allele Identifier: CA516377536

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49218527-C-A
• MyVariant Identifiers: chrX:g.49074986C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218527C>A , CM000685.2:g.49218527C>A	GRCh38
NC_000023.10:g.49074986C>A , CM000685.1:g.49074986C>A	GRCh37
NC_000023.9:g.48961930C>A	NCBI36
NG_009095.2:g.19840G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2856G>T MANE Select	ENSP00000321618.6:p.Ser952=
ENST00000323022.9:c.2856G>T	ENSP00000321618.5:p.Ser952=
ENST00000376251.5:c.2694G>T	ENSP00000365427.1:p.Ser898=
ENST00000376265.2:c.2889G>T	ENSP00000365441.2:p.Ser963=
NM_001256789.2:c.2856G>T	NP_001243718.1:p.Ser952=
NM_001256790.2:c.2694G>T	NP_001243719.1:p.Ser898=
NM_005183.3:c.2889G>T	NP_005174.2:p.Ser963=
XM_011543983.1:c.2694G>T	XP_011542285.1:p.Ser898=
XM_011543983.2:c.2694G>T	XP_011542285.1:p.Ser898=
XM_017029836.1:c.123G>T	XP_016885325.1:p.Ser41=
NM_001256789.3:c.2856G>T MANE Select	NP_001243718.1:p.Ser952=
NM_001256790.3:c.2694G>T	NP_001243719.1:p.Ser898=
NM_005183.4:c.2889G>T	NP_005174.2:p.Ser963=