Canonical Allele Identifier: CA516377397

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49217805-C-T
• COSMIC: COSM5412785
• MyVariant Identifiers: chrX:g.49074264C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217805C>T , CM000685.2:g.49217805C>T	GRCh38
NC_000023.10:g.49074264C>T , CM000685.1:g.49074264C>T	GRCh37
NC_000023.9:g.48961208C>T	NCBI36
NG_009095.2:g.20562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3039G>A MANE Select	ENSP00000321618.6:p.Gly1013=
ENST00000323022.9:c.3039G>A	ENSP00000321618.5:p.Gly1013=
ENST00000376251.5:c.2877G>A	ENSP00000365427.1:p.Gly959=
ENST00000376265.2:c.3072G>A	ENSP00000365441.2:p.Gly1024=
NM_001256789.2:c.3039G>A	NP_001243718.1:p.Gly1013=
NM_001256790.2:c.2877G>A	NP_001243719.1:p.Gly959=
NM_005183.3:c.3072G>A	NP_005174.2:p.Gly1024=
XM_011543983.1:c.2877G>A	XP_011542285.1:p.Gly959=
XM_011543983.2:c.2877G>A	XP_011542285.1:p.Gly959=
XM_017029836.1:c.306G>A	XP_016885325.1:p.Gly102=
NM_001256789.3:c.3039G>A MANE Select	NP_001243718.1:p.Gly1013=
NM_001256790.3:c.2877G>A	NP_001243719.1:p.Gly959=
NM_005183.4:c.3072G>A	NP_005174.2:p.Gly1024=