Canonical Allele Identifier: CA412964445

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49217955-C-T
• MyVariant Identifiers: chrX:g.49074414C>T (hg19) ; chrX:g.49217955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217955C>T , CM000685.2:g.49217955C>T	GRCh38
NC_000023.10:g.49074414C>T , CM000685.1:g.49074414C>T	GRCh37
NC_000023.9:g.48961358C>T	NCBI36
NG_009095.2:g.20412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2979G>A MANE Select	ENSP00000321618.6:p.Met993Ile
ENST00000323022.9:c.2979G>A	ENSP00000321618.5:p.Met993Ile
ENST00000376251.5:c.2817G>A	ENSP00000365427.1:p.Met939Ile
ENST00000376265.2:c.3012G>A	ENSP00000365441.2:p.Met1004Ile
NM_001256789.2:c.2979G>A	NP_001243718.1:p.Met993Ile
NM_001256790.2:c.2817G>A	NP_001243719.1:p.Met939Ile
NM_005183.3:c.3012G>A	NP_005174.2:p.Met1004Ile
XM_011543983.1:c.2817G>A	XP_011542285.1:p.Met939Ile
XM_011543983.2:c.2817G>A	XP_011542285.1:p.Met939Ile
XM_017029836.1:c.246G>A	XP_016885325.1:p.Met82Ile
NM_001256789.3:c.2979G>A MANE Select	NP_001243718.1:p.Met993Ile
NM_001256790.3:c.2817G>A	NP_001243719.1:p.Met939Ile
NM_005183.4:c.3012G>A	NP_005174.2:p.Met1004Ile