Canonical Allele Identifier: CA412964145

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49072978G>C (hg19) ; chrX:g.49216518G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216518G>C , CM000685.2:g.49216518G>C	GRCh38
NC_000023.10:g.49072978G>C , CM000685.1:g.49072978G>C	GRCh37
NC_000023.9:g.48959922G>C	NCBI36
NG_009095.2:g.21849C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3100C>G MANE Select	ENSP00000321618.6:p.Leu1034Val
ENST00000323022.9:c.3100C>G	ENSP00000321618.5:p.Leu1034Val
ENST00000376251.5:c.2938C>G	ENSP00000365427.1:p.Leu980Val
ENST00000376265.2:c.3133C>G	ENSP00000365441.2:p.Leu1045Val
NM_001256789.2:c.3100C>G	NP_001243718.1:p.Leu1034Val
NM_001256790.2:c.2938C>G	NP_001243719.1:p.Leu980Val
NM_005183.3:c.3133C>G	NP_005174.2:p.Leu1045Val
XM_011543983.1:c.2938C>G	XP_011542285.1:p.Leu980Val
XM_011543983.2:c.2938C>G	XP_011542285.1:p.Leu980Val
XM_017029836.1:c.367C>G	XP_016885325.1:p.Leu123Val
NM_001256789.3:c.3100C>G MANE Select	NP_001243718.1:p.Leu1034Val
NM_001256790.3:c.2938C>G	NP_001243719.1:p.Leu980Val
NM_005183.4:c.3133C>G	NP_005174.2:p.Leu1045Val