Canonical Allele Identifier: CA10410539

Gene: CACNA1F

Linked Data

• dbSNP Id: rs368277023
• ExAC: X:49074186 C / T
• gnomAD v2: X-49074186-C-T
• gnomAD v3: X-49217727-C-T
• gnomAD v4: X-49217727-C-T
• COSMIC: COSN7525822
• MyVariant Identifiers: chrX:g.49074186C>T (hg19) ; chrX:g.49217727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217727C>T , CM000685.2:g.49217727C>T	GRCh38
NC_000023.10:g.49074186C>T , CM000685.1:g.49074186C>T	GRCh37
NC_000023.9:g.48961130C>T	NCBI36
NG_009095.2:g.20640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3089+28G>A MANE Select	ENSP00000321618.6:n.3089+28G>A
ENST00000323022.9:c.3089+28G>A	ENSP00000321618.5:n.3089+28G>A
ENST00000376251.5:c.2927+28G>A	ENSP00000365427.1:n.2927+28G>A
ENST00000376265.2:c.3122+28G>A	ENSP00000365441.2:n.3122+28G>A
NM_001256789.2:c.3089+28G>A	NP_001243718.1:n.3089+28G>A
NM_001256790.2:c.2927+28G>A	NP_001243719.1:n.2927+28G>A
NM_005183.3:c.3122+28G>A	NP_005174.2:n.3122+28G>A
XM_011543983.1:c.2927+28G>A	XP_011542285.1:n.2927+28G>A
XM_011543983.2:c.2927+28G>A	XP_011542285.1:n.2927+28G>A
XM_017029836.1:c.356+28G>A	XP_016885325.1:n.356+28G>A
NM_001256789.3:c.3089+28G>A MANE Select	NP_001243718.1:n.3089+28G>A
NM_001256790.3:c.2927+28G>A	NP_001243719.1:n.2927+28G>A
NM_005183.4:c.3122+28G>A	NP_005174.2:n.3122+28G>A