Canonical Allele Identifier: CA412964122

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49072968G>C (hg19) ; chrX:g.49216508G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216508G>C , CM000685.2:g.49216508G>C	GRCh38
NC_000023.10:g.49072968G>C , CM000685.1:g.49072968G>C	GRCh37
NC_000023.9:g.48959912G>C	NCBI36
NG_009095.2:g.21859C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3110C>G MANE Select	ENSP00000321618.6:p.Pro1037Arg
ENST00000323022.9:c.3110C>G	ENSP00000321618.5:p.Pro1037Arg
ENST00000376251.5:c.2948C>G	ENSP00000365427.1:p.Pro983Arg
ENST00000376265.2:c.3143C>G	ENSP00000365441.2:p.Pro1048Arg
NM_001256789.2:c.3110C>G	NP_001243718.1:p.Pro1037Arg
NM_001256790.2:c.2948C>G	NP_001243719.1:p.Pro983Arg
NM_005183.3:c.3143C>G	NP_005174.2:p.Pro1048Arg
XM_011543983.1:c.2948C>G	XP_011542285.1:p.Pro983Arg
XM_011543983.2:c.2948C>G	XP_011542285.1:p.Pro983Arg
XM_017029836.1:c.377C>G	XP_016885325.1:p.Pro126Arg
NM_001256789.3:c.3110C>G MANE Select	NP_001243718.1:p.Pro1037Arg
NM_001256790.3:c.2948C>G	NP_001243719.1:p.Pro983Arg
NM_005183.4:c.3143C>G	NP_005174.2:p.Pro1048Arg