Canonical Allele Identifier: CA412964421

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49074403G>A (hg19) ; chrX:g.49217944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217944G>A , CM000685.2:g.49217944G>A	GRCh38
NC_000023.10:g.49074403G>A , CM000685.1:g.49074403G>A	GRCh37
NC_000023.9:g.48961347G>A	NCBI36
NG_009095.2:g.20423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2990C>T MANE Select	ENSP00000321618.6:p.Thr997Ile
ENST00000323022.9:c.2990C>T	ENSP00000321618.5:p.Thr997Ile
ENST00000376251.5:c.2828C>T	ENSP00000365427.1:p.Thr943Ile
ENST00000376265.2:c.3023C>T	ENSP00000365441.2:p.Thr1008Ile
NM_001256789.2:c.2990C>T	NP_001243718.1:p.Thr997Ile
NM_001256790.2:c.2828C>T	NP_001243719.1:p.Thr943Ile
NM_005183.3:c.3023C>T	NP_005174.2:p.Thr1008Ile
XM_011543983.1:c.2828C>T	XP_011542285.1:p.Thr943Ile
XM_011543983.2:c.2828C>T	XP_011542285.1:p.Thr943Ile
XM_017029836.1:c.257C>T	XP_016885325.1:p.Thr86Ile
NM_001256789.3:c.2990C>T MANE Select	NP_001243718.1:p.Thr997Ile
NM_001256790.3:c.2828C>T	NP_001243719.1:p.Thr943Ile
NM_005183.4:c.3023C>T	NP_005174.2:p.Thr1008Ile