Canonical Allele Identifier: CA329140235

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 547080
• ClinVar RCV Id: RCV000659160
• dbSNP Id: rs150518705
• MyVariant Identifiers: chrX:g.49072897C>G (hg19) ; chrX:g.49216437C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216437C>G , CM000685.2:g.49216437C>G	GRCh38
NC_000023.10:g.49072897C>G , CM000685.1:g.49072897C>G	GRCh37
NC_000023.9:g.48959841C>G	NCBI36
NG_009095.2:g.21930G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3181G>C MANE Select	ENSP00000321618.6:p.Val1061Leu
ENST00000323022.9:c.3181G>C	ENSP00000321618.5:p.Val1061Leu
ENST00000376251.5:c.3019G>C	ENSP00000365427.1:p.Val1007Leu
ENST00000376265.2:c.3214G>C	ENSP00000365441.2:p.Val1072Leu
NM_001256789.2:c.3181G>C	NP_001243718.1:p.Val1061Leu
NM_001256790.2:c.3019G>C	NP_001243719.1:p.Val1007Leu
NM_005183.3:c.3214G>C	NP_005174.2:p.Val1072Leu
XM_011543983.1:c.3019G>C	XP_011542285.1:p.Val1007Leu
XM_011543983.2:c.3019G>C	XP_011542285.1:p.Val1007Leu
XM_017029836.1:c.448G>C	XP_016885325.1:p.Val150Leu
NM_001256789.3:c.3181G>C MANE Select	NP_001243718.1:p.Val1061Leu
NM_001256790.3:c.3019G>C	NP_001243719.1:p.Val1007Leu
NM_005183.4:c.3214G>C	NP_005174.2:p.Val1072Leu