Canonical Allele Identifier: CA412964074

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49072944A>C (hg19) ; chrX:g.49216484A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216484A>C , CM000685.2:g.49216484A>C	GRCh38
NC_000023.10:g.49072944A>C , CM000685.1:g.49072944A>C	GRCh37
NC_000023.9:g.48959888A>C	NCBI36
NG_009095.2:g.21883T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3134T>G MANE Select	ENSP00000321618.6:p.Leu1045Arg
ENST00000323022.9:c.3134T>G	ENSP00000321618.5:p.Leu1045Arg
ENST00000376251.5:c.2972T>G	ENSP00000365427.1:p.Leu991Arg
ENST00000376265.2:c.3167T>G	ENSP00000365441.2:p.Leu1056Arg
NM_001256789.2:c.3134T>G	NP_001243718.1:p.Leu1045Arg
NM_001256790.2:c.2972T>G	NP_001243719.1:p.Leu991Arg
NM_005183.3:c.3167T>G	NP_005174.2:p.Leu1056Arg
XM_011543983.1:c.2972T>G	XP_011542285.1:p.Leu991Arg
XM_011543983.2:c.2972T>G	XP_011542285.1:p.Leu991Arg
XM_017029836.1:c.401T>G	XP_016885325.1:p.Leu134Arg
NM_001256789.3:c.3134T>G MANE Select	NP_001243718.1:p.Leu1045Arg
NM_001256790.3:c.2972T>G	NP_001243719.1:p.Leu991Arg
NM_005183.4:c.3167T>G	NP_005174.2:p.Leu1056Arg