Canonical Allele Identifier: CA516377411

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49217916-G-T
• MyVariant Identifiers: chrX:g.49074375G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217916G>T , CM000685.2:g.49217916G>T	GRCh38
NC_000023.10:g.49074375G>T , CM000685.1:g.49074375G>T	GRCh37
NC_000023.9:g.48961319G>T	NCBI36
NG_009095.2:g.20451C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3018C>A MANE Select	ENSP00000321618.6:p.Ile1006=
ENST00000323022.9:c.3018C>A	ENSP00000321618.5:p.Ile1006=
ENST00000376251.5:c.2856C>A	ENSP00000365427.1:p.Ile952=
ENST00000376265.2:c.3051C>A	ENSP00000365441.2:p.Ile1017=
NM_001256789.2:c.3018C>A	NP_001243718.1:p.Ile1006=
NM_001256790.2:c.2856C>A	NP_001243719.1:p.Ile952=
NM_005183.3:c.3051C>A	NP_005174.2:p.Ile1017=
XM_011543983.1:c.2856C>A	XP_011542285.1:p.Ile952=
XM_011543983.2:c.2856C>A	XP_011542285.1:p.Ile952=
XM_017029836.1:c.285C>A	XP_016885325.1:p.Ile95=
NM_001256789.3:c.3018C>A MANE Select	NP_001243718.1:p.Ile1006=
NM_001256790.3:c.2856C>A	NP_001243719.1:p.Ile952=
NM_005183.4:c.3051C>A	NP_005174.2:p.Ile1017=