Canonical Allele Identifier: CA201847783

Gene: CACNA1B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.138046946C>T , CM000671.2:g.138046946C>T	GRCh38
NC_000009.11:g.140941398C>T , CM000671.1:g.140941398C>T	GRCh37
NC_000009.10:g.140061219C>T	NCBI36
NG_042271.1:g.174158C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000718.4:c.3456C>T MANE Select	NP_000709.1:p.Phe1152=
ENST00000371372.6:c.3456C>T MANE Select	ENSP00000360423.1:p.Phe1152=
NM_000718.3:c.3456C>T	NP_000709.1:p.Phe1152=
NM_001243812.1:c.3456C>T	NP_001230741.1:p.Phe1152=
NM_001243812.2:c.3456C>T	NP_001230741.1:p.Phe1152=
ENST00000277549.9:c.3456C>T	ENSP00000277549.6:p.Phe1152=
ENST00000277551.6:c.3456C>T	ENSP00000277551.2:p.Phe1152=
ENST00000371355.8:c.3459C>T	ENSP00000360406.4:p.Phe1153=
ENST00000371357.5:c.3459C>T	ENSP00000360408.1:p.Phe1153=
ENST00000371363.5:c.3456C>T	ENSP00000360414.1:p.Phe1152=
ENST00000371372.5:c.3456C>T	ENSP00000360423.1:p.Phe1152=
XM_011518990.1:c.3516C>T	XP_011517292.1:p.Phe1172=
XM_011518991.1:c.3459C>T	XP_011517293.1:p.Phe1153=
XM_011518992.1:c.3456C>T	XP_011517294.1:p.Phe1152=
XM_011518993.1:c.3456C>T	XP_011517295.1:p.Phe1152=
XM_011518994.1:c.3459C>T	XP_011517296.1:p.Phe1153=
XM_011518995.1:c.3519C>T	XP_011517297.1:p.Phe1173=
XM_011518996.1:c.108C>T	XP_011517298.1:p.Phe36=
XM_011518997.1:c.3516C>T	XP_011517299.1:p.Phe1172=