Canonical Allele Identifier: CA516377305

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49072895G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216435G>C , CM000685.2:g.49216435G>C	GRCh38
NC_000023.10:g.49072895G>C , CM000685.1:g.49072895G>C	GRCh37
NC_000023.9:g.48959839G>C	NCBI36
NG_009095.2:g.21932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3183C>G MANE Select	ENSP00000321618.6:p.Val1061=
ENST00000323022.9:c.3183C>G	ENSP00000321618.5:p.Val1061=
ENST00000376251.5:c.3021C>G	ENSP00000365427.1:p.Val1007=
ENST00000376265.2:c.3216C>G	ENSP00000365441.2:p.Val1072=
NM_001256789.2:c.3183C>G	NP_001243718.1:p.Val1061=
NM_001256790.2:c.3021C>G	NP_001243719.1:p.Val1007=
NM_005183.3:c.3216C>G	NP_005174.2:p.Val1072=
XM_011543983.1:c.3021C>G	XP_011542285.1:p.Val1007=
XM_011543983.2:c.3021C>G	XP_011542285.1:p.Val1007=
XM_017029836.1:c.450C>G	XP_016885325.1:p.Val150=
NM_001256789.3:c.3183C>G MANE Select	NP_001243718.1:p.Val1061=
NM_001256790.3:c.3021C>G	NP_001243719.1:p.Val1007=
NM_005183.4:c.3216C>G	NP_005174.2:p.Val1072=