Canonical Allele Identifier: CA412964020

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49072917C>A (hg19) ; chrX:g.49216457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216457C>A , CM000685.2:g.49216457C>A	GRCh38
NC_000023.10:g.49072917C>A , CM000685.1:g.49072917C>A	GRCh37
NC_000023.9:g.48959861C>A	NCBI36
NG_009095.2:g.21910G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3161G>T MANE Select	ENSP00000321618.6:p.Ser1054Ile
ENST00000323022.9:c.3161G>T	ENSP00000321618.5:p.Ser1054Ile
ENST00000376251.5:c.2999G>T	ENSP00000365427.1:p.Ser1000Ile
ENST00000376265.2:c.3194G>T	ENSP00000365441.2:p.Ser1065Ile
NM_001256789.2:c.3161G>T	NP_001243718.1:p.Ser1054Ile
NM_001256790.2:c.2999G>T	NP_001243719.1:p.Ser1000Ile
NM_005183.3:c.3194G>T	NP_005174.2:p.Ser1065Ile
XM_011543983.1:c.2999G>T	XP_011542285.1:p.Ser1000Ile
XM_011543983.2:c.2999G>T	XP_011542285.1:p.Ser1000Ile
XM_017029836.1:c.428G>T	XP_016885325.1:p.Ser143Ile
NM_001256789.3:c.3161G>T MANE Select	NP_001243718.1:p.Ser1054Ile
NM_001256790.3:c.2999G>T	NP_001243719.1:p.Ser1000Ile
NM_005183.4:c.3194G>T	NP_005174.2:p.Ser1065Ile