Canonical Allele Identifier: CA412962256

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49212688C>T , CM000685.2:g.49212688C>T	GRCh38
NC_000023.10:g.49069148C>T , CM000685.1:g.49069148C>T	GRCh37
NC_000023.9:g.48956092C>T	NCBI36
NG_009095.2:g.25679G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.3921G>A MANE Select	NP_001243718.1:p.Trp1307Ter
ENST00000323022.10:c.3921G>A MANE Select	ENSP00000321618.6:p.Trp1307Ter
NM_001256789.2:c.3921G>A	NP_001243718.1:p.Trp1307Ter
NM_001256790.2:c.3759G>A	NP_001243719.1:p.Trp1253Ter
NM_001256790.3:c.3759G>A	NP_001243719.1:p.Trp1253Ter
NM_005183.3:c.3954G>A	NP_005174.2:p.Trp1318Ter
NM_005183.4:c.3954G>A	NP_005174.2:p.Trp1318Ter
ENST00000323022.9:c.3921G>A	ENSP00000321618.5:p.Trp1307Ter
ENST00000376251.5:c.3759G>A	ENSP00000365427.1:p.Trp1253Ter
ENST00000376265.2:c.3954G>A	ENSP00000365441.2:p.Trp1318Ter
XM_011543983.1:c.3738G>A	XP_011542285.1:p.Trp1246Ter
XM_011543983.2:c.3738G>A	XP_011542285.1:p.Trp1246Ter
XM_017029836.1:c.1167G>A	XP_016885325.1:p.Trp389Ter