Canonical Allele Identifier: CA10410278

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49211947G>A , CM000685.2:g.49211947G>A	GRCh38
NC_000023.10:g.49068407G>A , CM000685.1:g.49068407G>A	GRCh37
NC_000023.9:g.48955351G>A	NCBI36
NG_009095.2:g.26420C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.4051C>T MANE Select	NP_001243718.1:p.Arg1351Ter
ENST00000323022.10:c.4051C>T MANE Select	ENSP00000321618.6:p.Arg1351Ter
NM_001256789.2:c.4051C>T	NP_001243718.1:p.Arg1351Ter
NM_001256790.2:c.3889C>T	NP_001243719.1:p.Arg1297Ter
NM_001256790.3:c.3889C>T	NP_001243719.1:p.Arg1297Ter
NM_005183.3:c.4084C>T	NP_005174.2:p.Arg1362Ter
NM_005183.4:c.4084C>T	NP_005174.2:p.Arg1362Ter
ENST00000323022.9:c.4051C>T	ENSP00000321618.5:p.Arg1351Ter
ENST00000376251.5:c.3889C>T	ENSP00000365427.1:p.Arg1297Ter
ENST00000376265.2:c.4084C>T	ENSP00000365441.2:p.Arg1362Ter
XM_011543983.1:c.3868C>T	XP_011542285.1:p.Arg1290Ter
XM_011543983.2:c.3868C>T	XP_011542285.1:p.Arg1290Ter
XM_017029836.1:c.1297C>T	XP_016885325.1:p.Arg433Ter