Canonical Allele Identifier: CA214562
Gene: CACNA1B HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.138058108G>A
GRCh37 chr9:g.140952560G>A
Revel Score:
ENST00000371372 (MANE Select) 0.973
ENST00000277551 0.973
ENST00000277549 0.973
ENST00000371363 0.973
ENST00000371357 0.973
ENST00000371355 0.973
gnomAD v2:
9:140952560 G / A
gnomAD v3:
9:138058108 G / A
gnomAD v4:
chr9-138058108-G-A
Joint Max Group AF 0.00059403 (NFE)
Genomes Max Group AF 0.00058546 (NFE)
Exomes Max Group AF 0.00058639 (NFE)
ClinVar Allele:
187087
ClinVar RCV:
RCV000169631
RCV002517629
ClinVar Variation:
189196
dbSNP:
184841813
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.138058108G>A , CM000671.2:g.138058108G>A GRCh38
NC_000009.11:g.140952560G>A , CM000671.1:g.140952560G>A GRCh37
NC_000009.10:g.140072381G>A NCBI36
NG_042271.1:g.185320G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371372.6:c.4166G>A MANE Select ENSP00000360423.1:p.Arg1389His
ENST00000277549.9:c.4166G>A ENSP00000277549.6:p.Arg1389His
ENST00000277551.6:c.4166G>A ENSP00000277551.2:p.Arg1389His
ENST00000371355.8:c.4169G>A ENSP00000360406.4:p.Arg1390His
ENST00000371357.5:c.4169G>A ENSP00000360408.1:p.Arg1390His
ENST00000371363.5:c.4166G>A ENSP00000360414.1:p.Arg1389His
ENST00000371372.5:c.4166G>A ENSP00000360423.1:p.Arg1389His
NM_000718.3:c.4166G>A NP_000709.1:p.Arg1389His
NM_001243812.1:c.4166G>A NP_001230741.1:p.Arg1389His
XM_011518990.1:c.4238G>A XP_011517292.1:p.Arg1413His
XM_011518991.1:c.4181G>A XP_011517293.1:p.Arg1394His
XM_011518992.1:c.4178G>A XP_011517294.1:p.Arg1393His
XM_011518993.1:c.4178G>A XP_011517295.1:p.Arg1393His
XM_011518994.1:c.4169G>A XP_011517296.1:p.Arg1390His
XM_011518995.1:c.4241G>A XP_011517297.1:p.Arg1414His
XM_011518996.1:c.830G>A XP_011517298.1:p.Arg277His
XM_011518997.1:c.4226G>A XP_011517299.1:p.Arg1409His
NM_000718.4:c.4166G>A MANE Select NP_000709.1:p.Arg1389His
NM_001243812.2:c.4166G>A NP_001230741.1:p.Arg1389His
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