Canonical Allele Identifier: CA412964052

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49072930G>C (hg19) ; chrX:g.49216470G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216470G>C , CM000685.2:g.49216470G>C	GRCh38
NC_000023.10:g.49072930G>C , CM000685.1:g.49072930G>C	GRCh37
NC_000023.9:g.48959874G>C	NCBI36
NG_009095.2:g.21897C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3148C>G MANE Select	ENSP00000321618.6:p.Leu1050Val
ENST00000323022.9:c.3148C>G	ENSP00000321618.5:p.Leu1050Val
ENST00000376251.5:c.2986C>G	ENSP00000365427.1:p.Leu996Val
ENST00000376265.2:c.3181C>G	ENSP00000365441.2:p.Leu1061Val
NM_001256789.2:c.3148C>G	NP_001243718.1:p.Leu1050Val
NM_001256790.2:c.2986C>G	NP_001243719.1:p.Leu996Val
NM_005183.3:c.3181C>G	NP_005174.2:p.Leu1061Val
XM_011543983.1:c.2986C>G	XP_011542285.1:p.Leu996Val
XM_011543983.2:c.2986C>G	XP_011542285.1:p.Leu996Val
XM_017029836.1:c.415C>G	XP_016885325.1:p.Leu139Val
NM_001256789.3:c.3148C>G MANE Select	NP_001243718.1:p.Leu1050Val
NM_001256790.3:c.2986C>G	NP_001243719.1:p.Leu996Val
NM_005183.4:c.3181C>G	NP_005174.2:p.Leu1061Val