Canonical Allele Identifier: CA10410517

Gene: CACNA1F

Linked Data

• dbSNP Id: rs782730833
• ExAC: X:49072890 G / A
• gnomAD v2: X-49072890-G-A
• gnomAD v4: X-49216430-G-A
• MyVariant Identifiers: chrX:g.49072890G>A (hg19) ; chrX:g.49216430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216430G>A , CM000685.2:g.49216430G>A	GRCh38
NC_000023.10:g.49072890G>A , CM000685.1:g.49072890G>A	GRCh37
NC_000023.9:g.48959834G>A	NCBI36
NG_009095.2:g.21937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3188C>T MANE Select	ENSP00000321618.6:p.Ser1063Leu
ENST00000323022.9:c.3188C>T	ENSP00000321618.5:p.Ser1063Leu
ENST00000376251.5:c.3026C>T	ENSP00000365427.1:p.Ser1009Leu
ENST00000376265.2:c.3221C>T	ENSP00000365441.2:p.Ser1074Leu
NM_001256789.2:c.3188C>T	NP_001243718.1:p.Ser1063Leu
NM_001256790.2:c.3026C>T	NP_001243719.1:p.Ser1009Leu
NM_005183.3:c.3221C>T	NP_005174.2:p.Ser1074Leu
XM_011543983.1:c.3026C>T	XP_011542285.1:p.Ser1009Leu
XM_011543983.2:c.3026C>T	XP_011542285.1:p.Ser1009Leu
XM_017029836.1:c.455C>T	XP_016885325.1:p.Ser152Leu
NM_001256789.3:c.3188C>T MANE Select	NP_001243718.1:p.Ser1063Leu
NM_001256790.3:c.3026C>T	NP_001243719.1:p.Ser1009Leu
NM_005183.4:c.3221C>T	NP_005174.2:p.Ser1074Leu