Canonical Allele Identifier: CA10410781

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49224768C>T , CM000685.2:g.49224768C>T	GRCh38
NC_000023.10:g.49081230C>T , CM000685.1:g.49081230C>T	GRCh37
NC_000023.9:g.48968174C>T	NCBI36
NG_009095.2:g.13599G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.1870G>A MANE Select	NP_001243718.1:p.Val624Ile
ENST00000323022.10:c.1870G>A MANE Select	ENSP00000321618.6:p.Val624Ile
NM_001256789.2:c.1870G>A	NP_001243718.1:p.Val624Ile
NM_001256790.2:c.1708G>A	NP_001243719.1:p.Val570Ile
NM_001256790.3:c.1708G>A	NP_001243719.1:p.Val570Ile
NM_005183.3:c.1903G>A	NP_005174.2:p.Val635Ile
NM_005183.4:c.1903G>A	NP_005174.2:p.Val635Ile
ENST00000323022.9:c.1870G>A	ENSP00000321618.5:p.Val624Ile
ENST00000376251.5:c.1708G>A	ENSP00000365427.1:p.Val570Ile
ENST00000376265.2:c.1903G>A	ENSP00000365441.2:p.Val635Ile
XM_011543983.1:c.1708G>A	XP_011542285.1:p.Val570Ile
XM_011543983.2:c.1708G>A	XP_011542285.1:p.Val570Ile