Canonical Allele Identifier: CA10410524

Gene: CACNA1F

Linked Data

• dbSNP Id: rs782786112
• ExAC: X:49072943 C / T
• gnomAD v2: X-49072943-C-T
• gnomAD v3: X-49216483-C-T
• gnomAD v4: X-49216483-C-T
• MyVariant Identifiers: chrX:g.49072943C>T (hg19) ; chrX:g.49216483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216483C>T , CM000685.2:g.49216483C>T	GRCh38
NC_000023.10:g.49072943C>T , CM000685.1:g.49072943C>T	GRCh37
NC_000023.9:g.48959887C>T	NCBI36
NG_009095.2:g.21884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3135G>A MANE Select	ENSP00000321618.6:p.Leu1045=
ENST00000323022.9:c.3135G>A	ENSP00000321618.5:p.Leu1045=
ENST00000376251.5:c.2973G>A	ENSP00000365427.1:p.Leu991=
ENST00000376265.2:c.3168G>A	ENSP00000365441.2:p.Leu1056=
NM_001256789.2:c.3135G>A	NP_001243718.1:p.Leu1045=
NM_001256790.2:c.2973G>A	NP_001243719.1:p.Leu991=
NM_005183.3:c.3168G>A	NP_005174.2:p.Leu1056=
XM_011543983.1:c.2973G>A	XP_011542285.1:p.Leu991=
XM_011543983.2:c.2973G>A	XP_011542285.1:p.Leu991=
XM_017029836.1:c.402G>A	XP_016885325.1:p.Leu134=
NM_001256789.3:c.3135G>A MANE Select	NP_001243718.1:p.Leu1045=
NM_001256790.3:c.2973G>A	NP_001243719.1:p.Leu991=
NM_005183.4:c.3168G>A	NP_005174.2:p.Leu1056=